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Volumn 25, Issue 1, 2008, Pages 3-21

Molecular mechanisms of pediatric cardiomyopathies and new targeted therapies

Author keywords

Cardiomyopathies; Disruption; Mechanism; Therapies

Indexed keywords

ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; CANDESARTAN; CAPTOPRIL; CARVEDILOL; CONNECTIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; ENALAPRIL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; LAMIN A; LAMIN C; LOSARTAN; METOPROLOL; MYOSIN BINDING PROTEIN C; MYOSIN SUBFRAGMENT; PROPRANOLOL;

EID: 40949131738     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2007.11.001     Document Type: Article
Times cited : (5)

References (200)
  • 1
    • 40949113833 scopus 로고    scopus 로고
    • Cardiomyopathy
    • McMillian J.A., Feigin R.A., DeAngelis C.D., and Jones Jr. M.D. (Eds), Lippincott Williams & Wilkins, Philadelphia, PA Chapter 283
    • Towbin J., and Bowles N. Cardiomyopathy. In: McMillian J.A., Feigin R.A., DeAngelis C.D., and Jones Jr. M.D. (Eds). Oski's Pediatrics. Principles & Practice. 4th Edition (2005), Lippincott Williams & Wilkins, Philadelphia, PA 1624-1648 Chapter 283
    • (2005) Oski's Pediatrics. Principles & Practice. 4th Edition , pp. 1624-1648
    • Towbin, J.1    Bowles, N.2
  • 2
    • 0024605642 scopus 로고
    • The challenge of cardiomyopathy
    • Abelman W., and Lorrell B. The challenge of cardiomyopathy. J Am Coll Cardiol 13 (1989) 1219
    • (1989) J Am Coll Cardiol , vol.13 , pp. 1219
    • Abelman, W.1    Lorrell, B.2
  • 3
    • 40949127991 scopus 로고    scopus 로고
    • Towbin JA. Hypertrophic Cardiomyopathy. 2005. In: Heart Failure in Children and Young Adults. From Molecular Mechanisms to Medical and Surgical Strategies. Chang AC, Towbin JA, editors. Saunders Elsevier, Inc., Philadelphia, PA, 2006, Chapter 20, pp. 278-297.
    • Towbin JA. Hypertrophic Cardiomyopathy. 2005. In: Heart Failure in Children and Young Adults. From Molecular Mechanisms to Medical and Surgical Strategies. Chang AC, Towbin JA, editors. Saunders Elsevier, Inc., Philadelphia, PA, 2006, Chapter 20, pp. 278-297.
  • 4
    • 0037050022 scopus 로고    scopus 로고
    • The failing heart
    • Towbin J., and Bowles N. The failing heart. Nature 415 (2002) 227-233
    • (2002) Nature , vol.415 , pp. 227-233
    • Towbin, J.1    Bowles, N.2
  • 5
    • 14644427123 scopus 로고    scopus 로고
    • Genetic causes of human heart failure
    • Morita H., and Seidman C. Genetic causes of human heart failure. J Clin Invest 115 (2005) 518-526
    • (2005) J Clin Invest , vol.115 , pp. 518-526
    • Morita, H.1    Seidman, C.2
  • 6
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention
    • American Heart Association. Council on Clinical Cardiology, Heart Failure and Transplantation Committee. Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups. Council on Epidemiology and Prevention
    • Maron B., Towbin J., Thiene G., et al., American Heart Association, Council on Clinical Cardiology, Heart Failure and Transplantation Committee, Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups, Council on Epidemiology and Prevention. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 113 (2006) 1807-1816
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.1    Towbin, J.2    Thiene, G.3
  • 7
    • 0034769765 scopus 로고    scopus 로고
    • Schwartz SM, Duffy JY, Pearl JM, Nelson DP. Cellular and molecular aspects of myocardial dysfunction. 2001;29:S214-S219.
    • Schwartz SM, Duffy JY, Pearl JM, Nelson DP. Cellular and molecular aspects of myocardial dysfunction. 2001;29:S214-S219.
  • 8
    • 0034285043 scopus 로고    scopus 로고
    • To the heart of myofibril assembly
    • Gregorio C., and Antin P. To the heart of myofibril assembly. Trends Cell Biol 10 (2000) 355-362
    • (2000) Trends Cell Biol , vol.10 , pp. 355-362
    • Gregorio, C.1    Antin, P.2
  • 9
    • 1842858197 scopus 로고    scopus 로고
    • Striated muscle cytoarchitecture: an intricate web of form and function
    • Clark K., McElhinny A., Beckerle M., and Gregorio C. Striated muscle cytoarchitecture: an intricate web of form and function. Annu Rev Cell Dev Biol 18 (2002) 637-706
    • (2002) Annu Rev Cell Dev Biol , vol.18 , pp. 637-706
    • Clark, K.1    McElhinny, A.2    Beckerle, M.3    Gregorio, C.4
  • 10
    • 0028283285 scopus 로고
    • The muscle Z band: lessons in stress management
    • Vigoreaux J. The muscle Z band: lessons in stress management. J Muscle Res Cell Motil 15 (1994) 237-255
    • (1994) J Muscle Res Cell Motil , vol.15 , pp. 237-255
    • Vigoreaux, J.1
  • 11
    • 0342327346 scopus 로고    scopus 로고
    • Cadherins, catenins and APC protein; interplay between cytoskeletal complexes and signaling pathways
    • Barth A., Nathke I., and Nelson W. Cadherins, catenins and APC protein; interplay between cytoskeletal complexes and signaling pathways. Curr Opin Cell Biol 9 (1997) 683-690
    • (1997) Curr Opin Cell Biol , vol.9 , pp. 683-690
    • Barth, A.1    Nathke, I.2    Nelson, W.3
  • 12
    • 0036872241 scopus 로고    scopus 로고
    • Desmin cytoskeleton: a potential regulator of muscle mitochondrial behaviour and function
    • Capetanaki Y. Desmin cytoskeleton: a potential regulator of muscle mitochondrial behaviour and function. Trends Cardiovasc Med 12 (2002) 339-348
    • (2002) Trends Cardiovasc Med , vol.12 , pp. 339-348
    • Capetanaki, Y.1
  • 13
    • 33751297308 scopus 로고    scopus 로고
    • Mechanical forces regulate focal adhesion and costamere assembly in cardiac myocytes
    • Sharp W., Simpson D., Borg T., Samarel A., and Terracio L. Mechanical forces regulate focal adhesion and costamere assembly in cardiac myocytes. Am J Physiol 273 (1997) H546-H556
    • (1997) Am J Physiol , vol.273
    • Sharp, W.1    Simpson, D.2    Borg, T.3    Samarel, A.4    Terracio, L.5
  • 14
    • 0030909575 scopus 로고    scopus 로고
    • Muscular dystrophies and the dystrophin-glycoprotein complex
    • Straub V., and Campbell K. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol 10 (1997) 168-175
    • (1997) Curr Opin Neurol , vol.10 , pp. 168-175
    • Straub, V.1    Campbell, K.2
  • 15
    • 0035798418 scopus 로고    scopus 로고
    • Furukawa T, Ono Y, Tsuchiya H, et al. 2001. Specific interaction of the potassium channel beta-subunit iph with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. 313:775-784.
    • Furukawa T, Ono Y, Tsuchiya H, et al. 2001. Specific interaction of the potassium channel beta-subunit iph with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. 313:775-784.
  • 16
    • 0036945719 scopus 로고    scopus 로고
    • Localization of sodium channels in intercalated disks modulates cardiac conduction
    • Kucera J., Rohr S., and Rudy Y. Localization of sodium channels in intercalated disks modulates cardiac conduction. Circ Res 91 (2002) 1176-1182
    • (2002) Circ Res , vol.91 , pp. 1176-1182
    • Kucera, J.1    Rohr, S.2    Rudy, Y.3
  • 17
    • 33750121615 scopus 로고    scopus 로고
    • Incidence, causes, and outcome of dilated cardiomyopathy
    • Towbin J., Lowe A., Colan S., et al. Incidence, causes, and outcome of dilated cardiomyopathy. JAMA 296 (2006) 1867-1876
    • (2006) JAMA , vol.296 , pp. 1867-1876
    • Towbin, J.1    Lowe, A.2    Colan, S.3
  • 18
    • 0026319459 scopus 로고
    • The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
    • Michels V., Moll P., Miller F., et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 326 (1992) 77-82
    • (1992) N Engl J Med , vol.326 , pp. 77-82
    • Michels, V.1    Moll, P.2    Miller, F.3
  • 19
    • 0023215347 scopus 로고
    • X-linked dilated cardiomyopathy
    • Berko B., and Swift M. X-linked dilated cardiomyopathy. N Engl J Med 316 (1987) 1186-1191
    • (1987) N Engl J Med , vol.316 , pp. 1186-1191
    • Berko, B.1    Swift, M.2
  • 20
    • 0033051753 scopus 로고    scopus 로고
    • Etiologies cardiomyopathy and heart failure
    • Towbin J., Bowles K., and Bowles N. Etiologies cardiomyopathy and heart failure. Nat Med 5 (1999) 266-267
    • (1999) Nat Med , vol.5 , pp. 266-267
    • Towbin, J.1    Bowles, K.2    Bowles, N.3
  • 21
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy (XLCM): Molecular genetic evidence of linkage to the Duchenne muscular dystrophy gene at the Xp21 locus
    • Towbin J., Hejtmancik J., Brink P., et al. X-linked dilated cardiomyopathy (XLCM): Molecular genetic evidence of linkage to the Duchenne muscular dystrophy gene at the Xp21 locus. Circulation 87 (1993) 1854-1865
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.1    Hejtmancik, J.2    Brink, P.3
  • 22
    • 0027265702 scopus 로고
    • Brief report: deletion of the dystrophin muscle-specific promoter region associated with X-linked dilated cardiomyopathy
    • Muntoni F., Cau M., Ganau A., et al. Brief report: deletion of the dystrophin muscle-specific promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 329 (1993) 921-925
    • (1993) N Engl J Med , vol.329 , pp. 921-925
    • Muntoni, F.1    Cau, M.2    Ganau, A.3
  • 23
    • 0030981051 scopus 로고    scopus 로고
    • Dystrophies and heart disease
    • Cox G., and Kunkel L. Dystrophies and heart disease. Curr Opin Cardiol 12 (1997) 329-343
    • (1997) Curr Opin Cardiol , vol.12 , pp. 329-343
    • Cox, G.1    Kunkel, L.2
  • 24
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffman E., Brown R., and Kunkel L. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51 (1987) 919-928
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.1    Brown, R.2    Kunkel, L.3
  • 25
    • 17544379921 scopus 로고    scopus 로고
    • The association of cardiac dystrophin with myofibrils/z-discs regions in cardiac muscle suggests a novel role in the contractile apparatus
    • Meng H., Leddy J., Frank J., Holland P., and Tuana B. The association of cardiac dystrophin with myofibrils/z-discs regions in cardiac muscle suggests a novel role in the contractile apparatus. J Biol Chem 271 (1996) 12364-12371
    • (1996) J Biol Chem , vol.271 , pp. 12364-12371
    • Meng, H.1    Leddy, J.2    Frank, J.3    Holland, P.4    Tuana, B.5
  • 26
    • 0034612267 scopus 로고    scopus 로고
    • Distinct patterns of dystrophin organization in myocyte sarcolemma and transverse tubules of normal and diseased human myocardium
    • Kaprielian R., Stevenson S., Rothery S., Cullen M., and Severs N. Distinct patterns of dystrophin organization in myocyte sarcolemma and transverse tubules of normal and diseased human myocardium. Circulation 101 (2000) 2586-2594
    • (2000) Circulation , vol.101 , pp. 2586-2594
    • Kaprielian, R.1    Stevenson, S.2    Rothery, S.3    Cullen, M.4    Severs, N.5
  • 27
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M., Hoffman E., Bertelson C., et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50 (1987) 509-517
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.2    Bertelson, C.3
  • 28
    • 0027460658 scopus 로고
    • Dystrophin protects the sarcolemma from stresses developed during muscle contraction
    • Petrof B., Shrager J., Stedman H., Kelly A., and Sweeny H. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A 90 (1993) 3710-3714
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 3710-3714
    • Petrof, B.1    Shrager, J.2    Stedman, H.3    Kelly, A.4    Sweeny, H.5
  • 29
    • 0028914964 scopus 로고
    • Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage
    • Campbell K. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80 (1995) 675-679
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.1
  • 30
    • 0027533969 scopus 로고
    • Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle
    • Klietsch R., Ervasti J., Arnold W., Campbell K., and Jorgensen A. Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. Circ Res 72 (1993) 349-360
    • (1993) Circ Res , vol.72 , pp. 349-360
    • Klietsch, R.1    Ervasti, J.2    Arnold, W.3    Campbell, K.4    Jorgensen, A.5
  • 32
    • 0037160782 scopus 로고    scopus 로고
    • The muscular dystrophies
    • Emery A. The muscular dystrophies. Lancet 359 (2002) 687-695
    • (2002) Lancet , vol.359 , pp. 687-695
    • Emery, A.1
  • 33
    • 33749015734 scopus 로고    scopus 로고
    • Molecular mechanisms of muscular dystrophies: old and new players
    • Davies K., and Nowak K. Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol 7 (2006) 762-773
    • (2006) Nat Rev Mol Cell Biol , vol.7 , pp. 762-773
    • Davies, K.1    Nowak, K.2
  • 34
    • 0032006681 scopus 로고    scopus 로고
    • The role of cytoskeletal proteins in cardiomyopathies
    • Towbin J. The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol 10 (1998) 131-139
    • (1998) Curr Opin Cell Biol , vol.10 , pp. 131-139
    • Towbin, J.1
  • 35
    • 0033933967 scopus 로고    scopus 로고
    • The "Final Common Pathway" hypothesis and inherited cardiovascular disease: the role of cytoskeletal proteins in dilated cardiomyopathy
    • Bowles N., Bowles K., and Towbin J. The "Final Common Pathway" hypothesis and inherited cardiovascular disease: the role of cytoskeletal proteins in dilated cardiomyopathy. Herz 25 (2000) 168-175
    • (2000) Herz , vol.25 , pp. 168-175
    • Bowles, N.1    Bowles, K.2    Towbin, J.3
  • 36
    • 0036396662 scopus 로고    scopus 로고
    • Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy
    • Feng J., Yan J., Buzin C., Towbin J., and Sommer S. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol Genet Metab 77 (2002) 119-126
    • (2002) Mol Genet Metab , vol.77 , pp. 119-126
    • Feng, J.1    Yan, J.2    Buzin, C.3    Towbin, J.4    Sommer, S.5
  • 37
    • 0037130785 scopus 로고    scopus 로고
    • Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy
    • Feng J., Yan J., Buzin C., Sommer S., and Towbin J. Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol 40 (2002) 1120-1124
    • (2002) J Am Coll Cardiol , vol.40 , pp. 1120-1124
    • Feng, J.1    Yan, J.2    Buzin, C.3    Sommer, S.4    Towbin, J.5
  • 38
    • 0018393867 scopus 로고
    • An X-linked recessive cardiomyopathy with abnormal mitochondria
    • Neustein H., Lurie P., Dahms B., and Takahashi M. An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64 (1979) 24-29
    • (1979) Pediatrics , vol.64 , pp. 24-29
    • Neustein, H.1    Lurie, P.2    Dahms, B.3    Takahashi, M.4
  • 39
    • 0020974404 scopus 로고
    • An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
    • Barth P., Scholte H., Berden J., et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62 (1983) 327-355
    • (1983) J Neurol Sci , vol.62 , pp. 327-355
    • Barth, P.1    Scholte, H.2    Berden, J.3
  • 40
    • 0025951140 scopus 로고
    • X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
    • Kelley R., Cheatham J., Clark B., et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119 (1991) 738-747
    • (1991) J Pediatr , vol.119 , pp. 738-747
    • Kelley, R.1    Cheatham, J.2    Clark, B.3
  • 43
    • 0030774767 scopus 로고    scopus 로고
    • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
    • Bleyl S., Mumford B., Thompson V., et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61 (1997) 868-872
    • (1997) Am J Hum Genet , vol.61 , pp. 868-872
    • Bleyl, S.1    Mumford, B.2    Thompson, V.3
  • 44
    • 0022579313 scopus 로고
    • Evolution of hereditary cardiac conduction and muscle disorder: a study involving a family with 6 generations affected
    • Graber H., Unverferth D., Baker P., Ryan J., Baba N., and Wooley C. Evolution of hereditary cardiac conduction and muscle disorder: a study involving a family with 6 generations affected. Circulation 74 (1986) 21-35
    • (1986) Circulation , vol.74 , pp. 21-35
    • Graber, H.1    Unverferth, D.2    Baker, P.3    Ryan, J.4    Baba, N.5    Wooley, C.6
  • 45
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S., Bowles K., Vatta M., et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106 (2000) 655-662
    • (2000) J Clin Invest , vol.106 , pp. 655-662
    • Tsubata, S.1    Bowles, K.2    Vatta, M.3
  • 46
    • 34247124771 scopus 로고    scopus 로고
    • Genetics of dilated cardiomyopathy
    • Karkkainen S., and Peuhkurinen K. Genetics of dilated cardiomyopathy. Ann Med 32 (2007) 91-107
    • (2007) Ann Med , vol.32 , pp. 91-107
    • Karkkainen, S.1    Peuhkurinen, K.2
  • 47
    • 33746038182 scopus 로고    scopus 로고
    • Dilated cardiomyopathy: a tale of the cytoskeleton and beyond
    • Towbin J., and Bowles N. Dilated cardiomyopathy: a tale of the cytoskeleton and beyond. J Cardiovasc Electrophysiol 17 (2006) 919-926
    • (2006) J Cardiovasc Electrophysiol , vol.17 , pp. 919-926
    • Towbin, J.1    Bowles, N.2
  • 48
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson T., Michels V., Thibodeau S., Tai Y., and Keating M. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280 (1998) 750-752
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.1    Michels, V.2    Thibodeau, S.3    Tai, Y.4    Keating, M.5
  • 49
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago M., Sharma S., DePalma S., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 343 (2000) 1688-1696
    • (2000) N Engl J Med , vol.343 , pp. 1688-1696
    • Kamisago, M.1    Sharma, S.2    DePalma, S.3
  • 50
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutations responsible for idiopathic dilated cardiomyopathy
    • Li D., Tapscott T., Gonzalez O., et al. Desmin mutations responsible for idiopathic dilated cardiomyopathy. Circulation 100 (1999) 461-464
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1    Tapscott, T.2    Gonzalez, O.3
  • 51
    • 0036787237 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited cardiomyopathies
    • Fatkin D., and Graham R. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 82 (2002) 945-980
    • (2002) Physiol Rev , vol.82 , pp. 945-980
    • Fatkin, D.1    Graham, R.2
  • 53
    • 0033588050 scopus 로고    scopus 로고
    • Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy
    • Coral-Vazquez R., Cohn R., Moore S., et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 98 (1999) 465-474
    • (1999) Cell , vol.98 , pp. 465-474
    • Coral-Vazquez, R.1    Cohn, R.2    Moore, S.3
  • 54
    • 1842434556 scopus 로고    scopus 로고
    • Smooth muscle cell-extrinsic vascular spasms arise from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy
    • Wheeler M., Allikian M., Heydemann A., Hadhazy M., Zarnegar S., and McNally E. Smooth muscle cell-extrinsic vascular spasms arise from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J Clin Invest 113 (2004) 668-675
    • (2004) J Clin Invest , vol.113 , pp. 668-675
    • Wheeler, M.1    Allikian, M.2    Heydemann, A.3    Hadhazy, M.4    Zarnegar, S.5    McNally, E.6
  • 55
    • 0031471956 scopus 로고    scopus 로고
    • Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex
    • Sakamoto A., Ono K., Abe M., et al. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci U S A 94 (1997) 13873-13878
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 13873-13878
    • Sakamoto, A.1    Ono, K.2    Abe, M.3
  • 57
    • 0031034388 scopus 로고    scopus 로고
    • Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin
    • Maeda M., Holder E., Lowes B., Valent S., and Bies R. Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin. Circulation 95 (1997) 17-20
    • (1997) Circulation , vol.95 , pp. 17-20
    • Maeda, M.1    Holder, E.2    Lowes, B.3    Valent, S.4    Bies, R.5
  • 58
    • 30944435503 scopus 로고    scopus 로고
    • Sarcomeric protein mutations in dilated cardiomyopathy
    • Chang A., and Potter J. Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev 10 (2005) 225-235
    • (2005) Heart Fail Rev , vol.10 , pp. 225-235
    • Chang, A.1    Potter, J.2
  • 59
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt J., Kamisago M., Asahi M., et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299 (2003) 1410-1413
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.1    Kamisago, M.2    Asahi, M.3
  • 60
    • 85047687537 scopus 로고    scopus 로고
    • Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human
    • Haghighi K., Kolokathis F., Pater L., et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J Clin Invest 111 (2003) 869-876
    • (2003) J Clin Invest , vol.111 , pp. 869-876
    • Haghighi, K.1    Kolokathis, F.2    Pater, L.3
  • 61
    • 0842283230 scopus 로고    scopus 로고
    • Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy
    • Murphy R., Mogensen J., Shaw A., et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363 (2004) 371-372
    • (2004) Lancet , vol.363 , pp. 371-372
    • Murphy, R.1    Mogensen, J.2    Shaw, A.3
  • 62
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
    • Olson T., Kishimoto N., Whitby F., and Michels V. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 33 (2001) 723-732
    • (2001) J Mol Cell Cardiol , vol.33 , pp. 723-732
    • Olson, T.1    Kishimoto, N.2    Whitby, F.3    Michels, V.4
  • 63
    • 1242320058 scopus 로고    scopus 로고
    • At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function
    • Pyle W., and Solaro R. At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function. Circ Res 94 (2004) 296-305
    • (2004) Circ Res , vol.94 , pp. 296-305
    • Pyle, W.1    Solaro, R.2
  • 64
    • 0037184992 scopus 로고    scopus 로고
    • The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy
    • Knoll R., Hoshijima M., Hoffman H., et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 11 (2002) 943-955
    • (2002) Cell , vol.11 , pp. 943-955
    • Knoll, R.1    Hoshijima, M.2    Hoffman, H.3
  • 65
    • 0030933063 scopus 로고    scopus 로고
    • MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure
    • Arber S., Hunter J., Ross Jr. J., et al. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell 88 (1997) 393-403
    • (1997) Cell , vol.88 , pp. 393-403
    • Arber, S.1    Hunter, J.2    Ross Jr., J.3
  • 66
    • 0034643946 scopus 로고    scopus 로고
    • Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure
    • Zolk O., Caroni P., and Bohm M. Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure. Circulation 101 (2000) 2674-2677
    • (2000) Circulation , vol.101 , pp. 2674-2677
    • Zolk, O.1    Caroni, P.2    Bohm, M.3
  • 67
    • 0034643873 scopus 로고    scopus 로고
    • Cytoskeletal abnormalities in the failing heart. Out on a LIM?
    • Katz A. Cytoskeletal abnormalities in the failing heart. Out on a LIM?. Circulation 101 (2000) 2672-2673
    • (2000) Circulation , vol.101 , pp. 2672-2673
    • Katz, A.1
  • 68
    • 84924110084 scopus 로고    scopus 로고
    • Ablation of cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
    • Zhou Q., Chu P., Huang C., et al. Ablation of cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol 155 (2001) 605-612
    • (2001) J Cell Biol , vol.155 , pp. 605-612
    • Zhou, Q.1    Chu, P.2    Huang, C.3
  • 69
    • 1242342244 scopus 로고    scopus 로고
    • The grant protein titin: a major player in myocardial mechanics, signaling, and disease
    • Granzier H., and Labeit S. The grant protein titin: a major player in myocardial mechanics, signaling, and disease. Circ Res 94 (2004) 284-295
    • (2004) Circ Res , vol.94 , pp. 284-295
    • Granzier, H.1    Labeit, S.2
  • 70
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerul B., Gramlich M., Atherton J., et al. Mutations of TTN encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 30 (2002) 201-204
    • (2002) Nat Genet , vol.30 , pp. 201-204
    • Gerul, B.1    Gramlich, M.2    Atherton, J.3
  • 71
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 34 (1999) 1715-1724
    • (1999) N Engl J Med , vol.34 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 72
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A./C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky G., Muntoni F., Miocic S., Sinagra G., Sewry C., and Mestroni L. Lamin A./C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101 (2000) 473-476
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.1    Muntoni, F.2    Miocic, S.3    Sinagra, G.4    Sewry, C.5    Mestroni, L.6
  • 73
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: their structure, assembly and interactions
    • Stuurman N., Heins S., and Aebi U. Nuclear lamins: their structure, assembly and interactions. J Struct Biol 122 (1998) 42-66
    • (1998) J Struct Biol , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 74
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G., DiBarletta M., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21 (1999) 285-288
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    DiBarletta, M.2    Varnous, S.3
  • 75
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Di Barletta R., Ricci E., Galluzzi G., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66 (2000) 1407-1412
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Di Barletta, R.1    Ricci, E.2    Galluzzi, G.3
  • 76
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamin A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B)
    • Muchir A., Bonne G., van der Kooi A., et al. Identification of mutations in the gene encoding lamin A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). Hum Mol Genet 9 (2000) 1453-1459
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.3
  • 77
    • 33344464944 scopus 로고    scopus 로고
    • Laminopathies affecting skeletal and cardiac muscles: clinical and pathological aspects
    • Decostre V., Ben Yaou R., and Bonne G. Laminopathies affecting skeletal and cardiac muscles: clinical and pathological aspects. Acta Myol 24 (2005) 104-109
    • (2005) Acta Myol , vol.24 , pp. 104-109
    • Decostre, V.1    Ben Yaou, R.2    Bonne, G.3
  • 78
    • 28844466695 scopus 로고    scopus 로고
    • Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy
    • Taylor M., Slavov D., Gajewski A., Vlcek S., Ku L., Fain P., et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 26 (2005) 566-574
    • (2005) Hum Mutat , vol.26 , pp. 566-574
    • Taylor, M.1    Slavov, D.2    Gajewski, A.3    Vlcek, S.4    Ku, L.5    Fain, P.6
  • 79
    • 0033017374 scopus 로고    scopus 로고
    • Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy
    • Badorff C., Lee G.-H., Lamphear B., et al. Enteroviral protease 2A cleaves dystrophin: evidence of cytoskeletal disruption in an acquired cardiomyopathy. Nat Med 5 (1999) 320-326
    • (1999) Nat Med , vol.5 , pp. 320-326
    • Badorff, C.1    Lee, G.-H.2    Lamphear, B.3
  • 80
    • 0036344498 scopus 로고    scopus 로고
    • Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease
    • Xiong D., Lee G., Badorff C., et al. Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease. Nat Med 8 (2002) 872-877
    • (2002) Nat Med , vol.8 , pp. 872-877
    • Xiong, D.1    Lee, G.2    Badorff, C.3
  • 81
    • 0037117144 scopus 로고    scopus 로고
    • Molecular remodeling of dystrophin in patients with end-stage cardiomyopathies and reversal for patients on assist device therapy
    • Vatta M., Stetson S., Perez-Verdra A., et al. Molecular remodeling of dystrophin in patients with end-stage cardiomyopathies and reversal for patients on assist device therapy. Lancet 359 (2000) 936-941
    • (2000) Lancet , vol.359 , pp. 936-941
    • Vatta, M.1    Stetson, S.2    Perez-Verdra, A.3
  • 82
    • 1542331747 scopus 로고    scopus 로고
    • Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices
    • Vatta M., Stetson S., Jimenez S., et al. Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices. J Am Coll Cardiol 43 (2004) 811-817
    • (2004) J Am Coll Cardiol , vol.43 , pp. 811-817
    • Vatta, M.1    Stetson, S.2    Jimenez, S.3
  • 83
    • 0037070514 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: a systemic review
    • Maron B. Hypertrophic cardiomyopathy: a systemic review. JAMA 287 (2002) 1308-1320
    • (2002) JAMA , vol.287 , pp. 1308-1320
    • Maron, B.1
  • 84
    • 2942530660 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy
    • Elliott P., and McKenna W. Hypertrophic cardiomyopathy. Lancet 363 (2004) 188-189
    • (2004) Lancet , vol.363 , pp. 188-189
    • Elliott, P.1    McKenna, W.2
  • 85
    • 33847103768 scopus 로고    scopus 로고
    • Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry
    • Colan S., Lipshultz S., Lowe A., et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation 115 (2007) 773-781
    • (2007) Circulation , vol.115 , pp. 773-781
    • Colan, S.1    Lipshultz, S.2    Lowe, A.3
  • 86
    • 0036153781 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death
    • McKenna W., and Behr E. Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death. Heart 87 (2002) 169-176
    • (2002) Heart , vol.87 , pp. 169-176
    • McKenna, W.1    Behr, E.2
  • 87
    • 1942436225 scopus 로고    scopus 로고
    • Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy
    • Frenneaux M. Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart 90 (2004) 570-575
    • (2004) Heart , vol.90 , pp. 570-575
    • Frenneaux, M.1
  • 88
    • 0037454174 scopus 로고    scopus 로고
    • Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy
    • Maron B., Carney K., Lever H., et al. Relationship of race to sudden cardiac death in competitive athletes with hypertrophic cardiomyopathy. J Am Coll Cardiol 41 (2003) 974-980
    • (2003) J Am Coll Cardiol , vol.41 , pp. 974-980
    • Maron, B.1    Carney, K.2    Lever, H.3
  • 89
    • 0034538027 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy and sudden death: new perspective on risk stratification and prevention with the implantable cardioverter-defibrillator
    • Maron B. Hypertrophic cardiomyopathy and sudden death: new perspective on risk stratification and prevention with the implantable cardioverter-defibrillator. Eur Heart J 21 (2000) 1979-1983
    • (2000) Eur Heart J , vol.21 , pp. 1979-1983
    • Maron, B.1
  • 90
    • 0023269245 scopus 로고
    • Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilation in hypertrophic cardiomyopathy
    • Spirito P., Maron B., Bonow R., and Epstein S. Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilation in hypertrophic cardiomyopathy. Am J Cardiol 60 (1987) 123-139
    • (1987) Am J Cardiol , vol.60 , pp. 123-139
    • Spirito, P.1    Maron, B.2    Bonow, R.3    Epstein, S.4
  • 91
    • 4444349039 scopus 로고    scopus 로고
    • Diastolic heart failure
    • Aurigemma G., and Gaasch W. Diastolic heart failure. N Engl J Med 351 (2004) 1097-1105
    • (2004) N Engl J Med , vol.351 , pp. 1097-1105
    • Aurigemma, G.1    Gaasch, W.2
  • 92
    • 1542358948 scopus 로고    scopus 로고
    • Left ventricular diastolic dysfunction and diastolic heart failure
    • Gaasch W., and Zile M. Left ventricular diastolic dysfunction and diastolic heart failure. Annu Rev Med 55 (2004) 373-394
    • (2004) Annu Rev Med , vol.55 , pp. 373-394
    • Gaasch, W.1    Zile, M.2
  • 93
    • 0032950899 scopus 로고    scopus 로고
    • Genetics of neonatal cardiomyopathy
    • Towbin J., and Lipshultz S. Genetics of neonatal cardiomyopathy. Curr Opin Cardiol 14 (1999) 250-262
    • (1999) Curr Opin Cardiol , vol.14 , pp. 250-262
    • Towbin, J.1    Lipshultz, S.2
  • 94
    • 0000024141 scopus 로고
    • Contribution à l'étude des rétrécissements de l'orifice ventriculo-aortique
    • Vulpian A. Contribution à l'étude des rétrécissements de l'orifice ventriculo-aortique. Arch Physiol 3 (1868) 220-222
    • (1868) Arch Physiol , vol.3 , pp. 220-222
    • Vulpian, A.1
  • 95
    • 0037453073 scopus 로고    scopus 로고
    • Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies
    • Watkins H. Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies. Circulation 107 (2003) 1344-1346
    • (2003) Circulation , vol.107 , pp. 1344-1346
    • Watkins, H.1
  • 96
    • 0024426784 scopus 로고
    • Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1
    • Jarcho J., McKenna W., Pare J., et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 321 (1989) 1372-1378
    • (1989) N Engl J Med , vol.321 , pp. 1372-1378
    • Jarcho, J.1    McKenna, W.2    Pare, J.3
  • 97
    • 0025104401 scopus 로고
    • Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease
    • Solomon S., Jarcho J., McKenna W., et al. Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J Clin Invest 86 (1990) 993-999
    • (1990) J Clin Invest , vol.86 , pp. 993-999
    • Solomon, S.1    Jarcho, J.2    McKenna, W.3
  • 98
    • 0027420155 scopus 로고
    • A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3
    • Watkins H., MacRae C., Thierfelder L., et al. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet 3 (1993) 333-337
    • (1993) Nat Genet , vol.3 , pp. 333-337
    • Watkins, H.1    MacRae, C.2    Thierfelder, L.3
  • 99
    • 0027180678 scopus 로고
    • A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
    • Thierfelder L., MacRae C., Watkins H., et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci U S A 90 (1993) 6270-6274
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 6270-6274
    • Thierfelder, L.1    MacRae, C.2    Watkins, H.3
  • 100
    • 0027161005 scopus 로고
    • Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
    • Carrier L., Hengstenberg C., Beckmann J., et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet 4 (1993) 311-313
    • (1993) Nat Genet , vol.4 , pp. 311-313
    • Carrier, L.1    Hengstenberg, C.2    Beckmann, J.3
  • 101
    • 0029143611 scopus 로고
    • Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White Syndrome maps to a locus on chromosome 7q3
    • MacRae C., Ghaisas N., Kass S., et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White Syndrome maps to a locus on chromosome 7q3. J Clin Invest 96 (1995) 1216-1220
    • (1995) J Clin Invest , vol.96 , pp. 1216-1220
    • MacRae, C.1    Ghaisas, N.2    Kass, S.3
  • 102
    • 15844400653 scopus 로고    scopus 로고
    • Mutation in either the essential regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    • Poetter K., Jiang H., Hassanzadeh S., et al. Mutation in either the essential regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 13 (1996) 63-69
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3
  • 103
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    • Kimura A., Harada H., Park J., et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 16 (1997) 379-382
    • (1997) Nat Genet , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.3
  • 104
    • 18744433901 scopus 로고    scopus 로고
    • α-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
    • Mogensen J., Klausen I., Pederson A., et al. α-Cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 103 (1999) R39-R43
    • (1999) J Clin Invest , vol.103
    • Mogensen, J.1    Klausen, I.2    Pederson, A.3
  • 105
    • 0033610050 scopus 로고    scopus 로고
    • Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene
    • Satoh M., Takahashi M., Sakamoto T., Hiroe M., Marumo F., and Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 2625 (1999) 411-417
    • (1999) Biochem Biophys Res Commun , vol.2625 , pp. 411-417
    • Satoh, M.1    Takahashi, M.2    Sakamoto, T.3    Hiroe, M.4    Marumo, F.5    Kimura, A.6
  • 106
    • 0037453074 scopus 로고    scopus 로고
    • Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy
    • Geier C., Perrot A., Ozcelik C., et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 107 (2003) 1390-1395
    • (2003) Circulation , vol.107 , pp. 1390-1395
    • Geier, C.1    Perrot, A.2    Ozcelik, C.3
  • 107
    • 1942437588 scopus 로고    scopus 로고
    • Novel association of hypertrophic cardiomyopathy, sensorineural deafness and a mutation in unconventional myosin VI (MYO6)
    • Mohiddin S., Ahmed Z., Griffith A., et al. Novel association of hypertrophic cardiomyopathy, sensorineural deafness and a mutation in unconventional myosin VI (MYO6). J Med Genet 41 (2004) 309-314
    • (2004) J Med Genet , vol.41 , pp. 309-314
    • Mohiddin, S.1    Ahmed, Z.2    Griffith, A.3
  • 108
    • 10744220034 scopus 로고    scopus 로고
    • Identification and functional and of caveolin-3 mutation associated with familial hypertrophic cardiomyopathy
    • Hayashi T., Armimura T., Ueda K., et al. Identification and functional and of caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 313 (2004) 178-184
    • (2004) Biochem Biophys Res Commun , vol.313 , pp. 178-184
    • Hayashi, T.1    Armimura, T.2    Ueda, K.3
  • 109
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy from mutation identification to mechanistic paradigms
    • Seidman J., and Seidman C. The genetic basis for cardiomyopathy from mutation identification to mechanistic paradigms. Cell 108 (2001) 557-567
    • (2001) Cell , vol.108 , pp. 557-567
    • Seidman, J.1    Seidman, C.2
  • 110
    • 0037050022 scopus 로고    scopus 로고
    • The failing heart
    • Towbin J., and Bowles N. The failing heart. Nature 415 (2002) 227-233
    • (2002) Nature , vol.415 , pp. 227-233
    • Towbin, J.1    Bowles, N.2
  • 111
    • 0029896830 scopus 로고    scopus 로고
    • Molecular diversity of myofibrillar proteins: gene regulation and functional significance
    • Schiaffino S., and Reggiani C. Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev 76 (1996) 371-423
    • (1996) Physiol Rev , vol.76 , pp. 371-423
    • Schiaffino, S.1    Reggiani, C.2
  • 112
    • 0035859215 scopus 로고    scopus 로고
    • Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
    • Gollob M., Green M., Tang A., et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 344 (2001) 1823-1831
    • (2001) N Engl J Med , vol.344 , pp. 1823-1831
    • Gollob, M.1    Green, M.2    Tang, A.3
  • 113
    • 0035872209 scopus 로고    scopus 로고
    • Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for a central role of energy compromise in disease pathogenesis
    • Blair E., Redwood C., Ashrafian H., et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for a central role of energy compromise in disease pathogenesis. Hum Mol Genet 10 (2001) 1215-1220
    • (2001) Hum Mol Genet , vol.10 , pp. 1215-1220
    • Blair, E.1    Redwood, C.2    Ashrafian, H.3
  • 114
    • 0036167225 scopus 로고    scopus 로고
    • Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
    • Arad M., Benson D., Perez-Atayde A., et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 107 (2002) 357-362
    • (2002) J Clin Invest , vol.107 , pp. 357-362
    • Arad, M.1    Benson, D.2    Perez-Atayde, A.3
  • 115
    • 0037155048 scopus 로고    scopus 로고
    • Mutations of the light meromyosin domain of the β-myosin heavy chain rod in hypertrophic cardiomyopathy
    • Blair E., Redwood C., de Jesus Oliveira M., et al. Mutations of the light meromyosin domain of the β-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res 90 (2002) 263-269
    • (2002) Circ Res , vol.90 , pp. 263-269
    • Blair, E.1    Redwood, C.2    de Jesus Oliveira, M.3
  • 116
    • 0026360178 scopus 로고
    • 2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers
    • 2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers. J Gen Physiol 97 (1991) 1141-1163
    • (1991) J Gen Physiol , vol.97 , pp. 1141-1163
    • Hofmann, P.1    Hartzell, H.2    Moss, R.3
  • 117
    • 0026218642 scopus 로고
    • The molecular basis for tropomyosin isoform diversity
    • Lees-Miller J., and Helfman D. The molecular basis for tropomyosin isoform diversity. Bioessays 13 (1991) 429-437
    • (1991) Bioessays , vol.13 , pp. 429-437
    • Lees-Miller, J.1    Helfman, D.2
  • 118
    • 0028969444 scopus 로고
    • Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart
    • Mesnard L., Logeart D., Taviaux S., Diriong S., Mercadier J., and Samson F. Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. Circ Res 76 (1995) 687-692
    • (1995) Circ Res , vol.76 , pp. 687-692
    • Mesnard, L.1    Logeart, D.2    Taviaux, S.3    Diriong, S.4    Mercadier, J.5    Samson, F.6
  • 119
    • 0028792519 scopus 로고
    • Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart
    • Townsend P., Barton P., Yacoub M., and Farza H. Molecular cloning of human cardiac troponin T isoforms: expression in developing and failing heart. J Mol Cell Cardiol 27 (1995) 2223-2236
    • (1995) J Mol Cell Cardiol , vol.27 , pp. 2223-2236
    • Townsend, P.1    Barton, P.2    Yacoub, M.3    Farza, H.4
  • 120
    • 0025935299 scopus 로고
    • Troponin I isoform expression in human heart
    • Hunkeler N., Kullman J., and Murphy A. Troponin I isoform expression in human heart. Circ Res 69 (1991) 1409-1414
    • (1991) Circ Res , vol.69 , pp. 1409-1414
    • Hunkeler, N.1    Kullman, J.2    Murphy, A.3
  • 121
    • 33750816260 scopus 로고    scopus 로고
    • Echocardiography-determined septal morphology in Z-disc hypertrophic cardiomyopathy
    • Theis J., Bos J., Bartleson V., et al. Echocardiography-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun 351 (2006) 896-902
    • (2006) Biochem Biophys Res Commun , vol.351 , pp. 896-902
    • Theis, J.1    Bos, J.2    Bartleson, V.3
  • 122
    • 34147182155 scopus 로고    scopus 로고
    • Myozenin-2 is a novel gene for human hypertrophic cardiomyopathy
    • Osio A., Tan L., Chen S., et al. Myozenin-2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res 100 (2007) 766-768
    • (2007) Circ Res , vol.100 , pp. 766-768
    • Osio, A.1    Tan, L.2    Chen, S.3
  • 123
    • 0026573969 scopus 로고
    • Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    • Watkins H., Rosenzweig T., Hwang D., et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 326 (1992) 1108-1114
    • (1992) N Engl J Med , vol.326 , pp. 1108-1114
    • Watkins, H.1    Rosenzweig, T.2    Hwang, D.3
  • 124
    • 0031052924 scopus 로고    scopus 로고
    • Sudden death due to troponin T mutations
    • Moolman J., Corfield V., Posen B., et al. Sudden death due to troponin T mutations. J Am Coll Cardiol 29 (1997) 549-555
    • (1997) J Am Coll Cardiol , vol.29 , pp. 549-555
    • Moolman, J.1    Corfield, V.2    Posen, B.3
  • 126
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    • Bonne G., Carrier L., Bercovici J., et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 11 (1995) 438-440
    • (1995) Nat Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3
  • 127
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
    • Watkins H., Conner D., Thierfelder L., et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 11 (1995) 434-437
    • (1995) Nat Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3
  • 128
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • Niimura H., Bachinski L., Sangwatanaroj S., et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 338 (1998) 1248-1257
    • (1998) N Engl J Med , vol.338 , pp. 1248-1257
    • Niimura, H.1    Bachinski, L.2    Sangwatanaroj, S.3
  • 129
    • 0032499634 scopus 로고    scopus 로고
    • Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to cardiac myosin-binding protein C gene
    • Charron P., Dubourg O., Desnos M., et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to cardiac myosin-binding protein C gene. Circulation 97 (1998) 2230-2236
    • (1998) Circulation , vol.97 , pp. 2230-2236
    • Charron, P.1    Dubourg, O.2    Desnos, M.3
  • 130
    • 0037058868 scopus 로고    scopus 로고
    • Prevalence and severity of "benign" mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy
    • Van Driest S., Ackerman M., Ommen S., et al. Prevalence and severity of "benign" mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 106 (2002) 3085-3090
    • (2002) Circulation , vol.106 , pp. 3085-3090
    • Van Driest, S.1    Ackerman, M.2    Ommen, S.3
  • 131
    • 0028784754 scopus 로고
    • Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy
    • Yoneya K., Okamoto H., Machida M., et al. Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy. Am Heart J 130 (1995) 1089-1093
    • (1995) Am Heart J , vol.130 , pp. 1089-1093
    • Yoneya, K.1    Okamoto, H.2    Machida, M.3
  • 132
    • 0031080069 scopus 로고    scopus 로고
    • The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation
    • Tesson F., Dufour C., Moolman J., et al. The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol 29 (1997) 831-838
    • (1997) J Mol Cell Cardiol , vol.29 , pp. 831-838
    • Tesson, F.1    Dufour, C.2    Moolman, J.3
  • 133
    • 0036178004 scopus 로고    scopus 로고
    • Genetic polymorphisms in the rennin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene
    • Ortlepp J., Vosberg H., Reith S., et al. Genetic polymorphisms in the rennin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. Heart 87 (2002) 270-275
    • (2002) Heart , vol.87 , pp. 270-275
    • Ortlepp, J.1    Vosberg, H.2    Reith, S.3
  • 134
    • 0023144759 scopus 로고
    • Comparative effects of calcium-channel blockers and beta-adrenergic blocker on early diastolic time intervals and A-wave ratio in patients with hypertrophic cardiomyopathy
    • Doiuchi J., Hamada M., Ito T., and Kokubu T. Comparative effects of calcium-channel blockers and beta-adrenergic blocker on early diastolic time intervals and A-wave ratio in patients with hypertrophic cardiomyopathy. Clin Cardiol 10 (1987) 26-30
    • (1987) Clin Cardiol , vol.10 , pp. 26-30
    • Doiuchi, J.1    Hamada, M.2    Ito, T.3    Kokubu, T.4
  • 135
    • 0021922353 scopus 로고
    • Use of calcium channel blockers in hypertrophic cardiomyopathy
    • Lorell B. Use of calcium channel blockers in hypertrophic cardiomyopathy. Am J Med 78 (1985) 43-54
    • (1985) Am J Med , vol.78 , pp. 43-54
    • Lorell, B.1
  • 136
    • 0032113264 scopus 로고    scopus 로고
    • Verapamil therapy in infants with hypertrophic cardiomyopathy
    • Moran A., and Colan S. Verapamil therapy in infants with hypertrophic cardiomyopathy. Cardiol Young 8 (1998) 310-319
    • (1998) Cardiol Young , vol.8 , pp. 310-319
    • Moran, A.1    Colan, S.2
  • 137
    • 0035890036 scopus 로고    scopus 로고
    • Comparison of ethanol septal reduction therapy with surgical myectomy for the treatment of hypertrophic obstructive cardiomyopathy
    • Nagueh S., Ommen S., Lakkis N., et al. Comparison of ethanol septal reduction therapy with surgical myectomy for the treatment of hypertrophic obstructive cardiomyopathy. J Am Coll Cardiol 38 (2001) 1701-1706
    • (2001) J Am Coll Cardiol , vol.38 , pp. 1701-1706
    • Nagueh, S.1    Ommen, S.2    Lakkis, N.3
  • 138
    • 8344290546 scopus 로고    scopus 로고
    • Maron BJ, Dearani JA, Ommen SR, et al. The case for surgery in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 44:2043-2053.
    • Maron BJ, Dearani JA, Ommen SR, et al. The case for surgery in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 44:2043-2053.
  • 139
    • 0033600550 scopus 로고    scopus 로고
    • Cardiac pacing. An alternative treatment for selected patients with hypertrophic cardiomyopathy and adjunctive therapy for certain patients with dilated cardiomyopathy
    • O'Rourke R. Cardiac pacing. An alternative treatment for selected patients with hypertrophic cardiomyopathy and adjunctive therapy for certain patients with dilated cardiomyopathy. Circulation 100 (1999) 786-788
    • (1999) Circulation , vol.100 , pp. 786-788
    • O'Rourke, R.1
  • 140
    • 0030027221 scopus 로고    scopus 로고
    • Appraisal of dual-chamber pacing therapy in hypertrophic cardiomyopathy: too soon for a rush to judgment?
    • Maron B. Appraisal of dual-chamber pacing therapy in hypertrophic cardiomyopathy: too soon for a rush to judgment?. J Am Coll Cardiol 27 (1996) 431-432
    • (1996) J Am Coll Cardiol , vol.27 , pp. 431-432
    • Maron, B.1
  • 141
    • 0035165517 scopus 로고    scopus 로고
    • Dual chamber pacemaker therapy for mid-cavity obstructive hypertrophic cardiomyopathy
    • Begley D., Mohiddin S., and Fananapazir L. Dual chamber pacemaker therapy for mid-cavity obstructive hypertrophic cardiomyopathy. Pacing Clin Electrophysiol 24 (2001) 1639-1644
    • (2001) Pacing Clin Electrophysiol , vol.24 , pp. 1639-1644
    • Begley, D.1    Mohiddin, S.2    Fananapazir, L.3
  • 142
    • 1342288505 scopus 로고    scopus 로고
    • Predictors of outcome after alcohol septal ablation therapy in patients with hypertrophic obstructive cardiomyopathy
    • Chang S., Lakkis N., Franklin J., Spencer III W., and Nagueh S. Predictors of outcome after alcohol septal ablation therapy in patients with hypertrophic obstructive cardiomyopathy. Circulation 109 (2004) 824-827
    • (2004) Circulation , vol.109 , pp. 824-827
    • Chang, S.1    Lakkis, N.2    Franklin, J.3    Spencer III, W.4    Nagueh, S.5
  • 143
    • 0038546823 scopus 로고    scopus 로고
    • Nonsurgical septal reduction therapy for hypertrophic obstructive cardiomyopathy: short-term results in 50 consecutive procedures
    • Nielsen C., Killip D., and Spencer III W. Nonsurgical septal reduction therapy for hypertrophic obstructive cardiomyopathy: short-term results in 50 consecutive procedures. Clin Cardiol 26 (2003) 275-279
    • (2003) Clin Cardiol , vol.26 , pp. 275-279
    • Nielsen, C.1    Killip, D.2    Spencer III, W.3
  • 144
    • 0037162385 scopus 로고    scopus 로고
    • Acute effect of nonsurgical septal reduction therapy on regional left ventricular asynchrony in patients with hypertrophic obstructive cardiomyopathy
    • Park T., Lakkis N., Middleton K., et al. Acute effect of nonsurgical septal reduction therapy on regional left ventricular asynchrony in patients with hypertrophic obstructive cardiomyopathy. Circulation 106 (2002) 412-415
    • (2002) Circulation , vol.106 , pp. 412-415
    • Park, T.1    Lakkis, N.2    Middleton, K.3
  • 145
    • 8144226241 scopus 로고    scopus 로고
    • New treatment strategies for hypertrophic obstructive cardiomyopathy
    • Hess O., and Sigwart U. New treatment strategies for hypertrophic obstructive cardiomyopathy. J Am Coll Cardiol 44 (2004) 2054-2055
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2054-2055
    • Hess, O.1    Sigwart, U.2
  • 146
    • 0020052713 scopus 로고
    • Fabry disease: impaired autonomic function
    • Cable W., Kolodny E., and Adams R. Fabry disease: impaired autonomic function. Neurology 32 (1982) 498-502
    • (1982) Neurology , vol.32 , pp. 498-502
    • Cable, W.1    Kolodny, E.2    Adams, R.3
  • 147
    • 0037172851 scopus 로고    scopus 로고
    • Clinicopathological features of genetically confirmed Danon disease
    • Sugie K., Yamamoto A., Murayama K., et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 58 (2002) 1773-1778
    • (2002) Neurology , vol.58 , pp. 1773-1778
    • Sugie, K.1    Yamamoto, A.2    Murayama, K.3
  • 148
    • 24944575163 scopus 로고    scopus 로고
    • Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
    • Yang Z., McMahon C., Smith L., et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation 112 11 (Sep 13 2005) 1612-1617
    • (2005) Circulation , vol.112 , Issue.11 , pp. 1612-1617
    • Yang, Z.1    McMahon, C.2    Smith, L.3
  • 149
    • 0000243356 scopus 로고
    • Glycogen storage diseases
    • Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
    • Hers H., van Hoof F., and de Barsy T. Glycogen storage diseases. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic Basis of Inherited Disease. 6th Ed. (1989), McGraw-Hill, New York 425-452
    • (1989) The Metabolic Basis of Inherited Disease. 6th Ed. , pp. 425-452
    • Hers, H.1    van Hoof, F.2    de Barsy, T.3
  • 150
    • 0027215234 scopus 로고
    • Molecular genetic aspects of cardiomyopathy
    • Towbin J. Molecular genetic aspects of cardiomyopathy. Biochem Med Metab Biol 49 (1993) 283-320
    • (1993) Biochem Med Metab Biol , vol.49 , pp. 283-320
    • Towbin, J.1
  • 151
    • 0018646407 scopus 로고
    • Genetics of type II glycogenosis: assignment of the human gene for acid α-glucosidase to chromosome 17
    • D'Ancona G., Wurm J., and Croce C. Genetics of type II glycogenosis: assignment of the human gene for acid α-glucosidase to chromosome 17. Proc Natl Acad Sci U S A 76 (1979) 4526-4529
    • (1979) Proc Natl Acad Sci U S A , vol.76 , pp. 4526-4529
    • D'Ancona, G.1    Wurm, J.2    Croce, C.3
  • 152
    • 0020655515 scopus 로고
    • Genetic heterogeneity in acid α-glucosidase deficiency
    • Beratis N., LaBadie G., and Hirschhorn K. Genetic heterogeneity in acid α-glucosidase deficiency. Am J Hum Genet 35 (1983) 21-33
    • (1983) Am J Hum Genet , vol.35 , pp. 21-33
    • Beratis, N.1    LaBadie, G.2    Hirschhorn, K.3
  • 153
    • 0026006438 scopus 로고
    • Identification of a missense mutation in one allele of a patient with Pompe disease and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele
    • Zhong N., Martiniuk F., Tzall S., and Hirschhorn R. Identification of a missense mutation in one allele of a patient with Pompe disease and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele. Am J Hum Genet 49 (1991) 635-645
    • (1991) Am J Hum Genet , vol.49 , pp. 635-645
    • Zhong, N.1    Martiniuk, F.2    Tzall, S.3    Hirschhorn, R.4
  • 154
    • 0142089744 scopus 로고    scopus 로고
    • Enzyme replacement therapy in the mouse model of Pompe disease
    • Raben N., Danon M., Gilbert A., et al. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80 (2003) 159-169
    • (2003) Mol Genet Metab , vol.80 , pp. 159-169
    • Raben, N.1    Danon, M.2    Gilbert, A.3
  • 156
    • 0020264180 scopus 로고
    • Hypertrophic obstructive cardiomyopathy due to Fabry's disease
    • Colucci W., Lorell B., Schoen F., Warhol M., and Grossman W. Hypertrophic obstructive cardiomyopathy due to Fabry's disease. N Engl J Med 307 (1982) 926-928
    • (1982) N Engl J Med , vol.307 , pp. 926-928
    • Colucci, W.1    Lorell, B.2    Schoen, F.3    Warhol, M.4    Grossman, W.5
  • 157
    • 0016716506 scopus 로고
    • Cardiac manifestations of Fabry's disease: report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction
    • Becker A., Schoorl R., Balk A., and van der Heide R. Cardiac manifestations of Fabry's disease: report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol 36 (1975) 829-835
    • (1975) Am J Cardiol , vol.36 , pp. 829-835
    • Becker, A.1    Schoorl, R.2    Balk, A.3    van der Heide, R.4
  • 158
    • 0022578120 scopus 로고
    • Echocardiographic abnormalities and disease severity in Fabry's disease
    • Goldman M., Cantor R., Schwartz M., Baker M., and Desnick R. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 7 (1986) 1157-1161
    • (1986) J Am Coll Cardiol , vol.7 , pp. 1157-1161
    • Goldman, M.1    Cantor, R.2    Schwartz, M.3    Baker, M.4    Desnick, R.5
  • 159
  • 161
    • 0028269904 scopus 로고
    • Molecular basis of Fabry disease. Mutations and polymorphisms in the human α-galactosidase A gene
    • Eng C., and Desnick R. Molecular basis of Fabry disease. Mutations and polymorphisms in the human α-galactosidase A gene. Hum Mutat 3 (1994) 103-111
    • (1994) Hum Mutat , vol.3 , pp. 103-111
    • Eng, C.1    Desnick, R.2
  • 162
    • 0028990407 scopus 로고
    • α-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins
    • Okumiya T., Ishii S., Kase R., Sakuraba H., and Suzuki Y. α-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins. Hum Genet 95 (1995) 557-561
    • (1995) Hum Genet , vol.95 , pp. 557-561
    • Okumiya, T.1    Ishii, S.2    Kase, R.3    Sakuraba, H.4    Suzuki, Y.5
  • 163
    • 0029023150 scopus 로고
    • An atypical variant of Fabry's disease in men with left ventricular hypertrophy
    • Nakao S., Takenaka T., Maeda M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
    • (1995) N Engl J Med , vol.333 , pp. 288-293
    • Nakao, S.1    Takenaka, T.2    Maeda, M.3
  • 164
    • 0343618421 scopus 로고    scopus 로고
    • New insights in cardiac structural changes in patients with Fabry's disease
    • Linhart A., Palecek T., Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 139 (2000) 1101-1108
    • (2000) Am Heart J , vol.139 , pp. 1101-1108
    • Linhart, A.1    Palecek, T.2    Bultas J3
  • 165
    • 0037177166 scopus 로고    scopus 로고
    • Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
    • Sachdev B., Takenaka T., Teraguchih H., et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
    • (2002) Circulation , vol.105 , pp. 1407-1411
    • Sachdev, B.1    Takenaka, T.2    Teraguchih, H.3
  • 166
    • 0019378026 scopus 로고
    • Lysosomal glycogen storage disease with normal acid maltase
    • Danon M., Oh S., DiMauro S., et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology 31 (1981) 51-57
    • (1981) Neurology , vol.31 , pp. 51-57
    • Danon, M.1    Oh, S.2    DiMauro, S.3
  • 167
    • 17044440789 scopus 로고    scopus 로고
    • Primary LAMP-2 deficiency causes X-linked vascular cardiomyopathy and myopathy (Danon Disease)
    • Nishino I., Fu J., Tanji K., et al. Primary LAMP-2 deficiency causes X-linked vascular cardiomyopathy and myopathy (Danon Disease). Nature 406 (2000) 906-909
    • (2000) Nature , vol.406 , pp. 906-909
    • Nishino, I.1    Fu, J.2    Tanji, K.3
  • 168
    • 4544237167 scopus 로고    scopus 로고
    • Charron P, Villard E, Sebillon P, et al. Danon's disease as a cause of hypertrophic cardiomyopathy: A systematic survey. Heart 90:842-846.
    • Charron P, Villard E, Sebillon P, et al. Danon's disease as a cause of hypertrophic cardiomyopathy: A systematic survey. Heart 90:842-846.
  • 169
    • 0034654362 scopus 로고    scopus 로고
    • Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding
    • Cheung P., Salt I., Davies S., Hardie D., and Carling D. Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding. Biochem J 346 (2000) 659-669
    • (2000) Biochem J , vol.346 , pp. 659-669
    • Cheung, P.1    Salt, I.2    Davies, S.3    Hardie, D.4    Carling, D.5
  • 171
    • 0037782349 scopus 로고    scopus 로고
    • Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff Parkinson-White syndrome in glycogen storage cardiomyopathy
    • Arad M., Moskowitz I., Patel V., et al. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation 107 (2003) 2850-2856
    • (2003) Circulation , vol.107 , pp. 2850-2856
    • Arad, M.1    Moskowitz, I.2    Patel, V.3
  • 172
    • 0022751029 scopus 로고    scopus 로고
    • The elucidation of the human mitochondrial genome: a historical perspective
    • Attardi G. The elucidation of the human mitochondrial genome: a historical perspective. Bioessays 5 (1996) 34-39
    • (1996) Bioessays , vol.5 , pp. 34-39
    • Attardi, G.1
  • 173
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace D., Zheng X., Lott M., et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55 (1988) 601-610
    • (1988) Cell , vol.55 , pp. 601-610
    • Wallace, D.1    Zheng, X.2    Lott, M.3
  • 174
    • 0024541068 scopus 로고
    • Mitochondrial DNA mutation and neuromuscular disease
    • Wallace D. Mitochondrial DNA mutation and neuromuscular disease. Trends Genet 5 (1989) 9-13
    • (1989) Trends Genet , vol.5 , pp. 9-13
    • Wallace, D.1
  • 175
    • 0025368859 scopus 로고
    • Mitochondrial genome: defects, disease, and evolution
    • Clarke A. Mitochondrial genome: defects, disease, and evolution. J Med Genet 27 (1990) 451-456
    • (1990) J Med Genet , vol.27 , pp. 451-456
    • Clarke, A.1
  • 176
    • 0024974101 scopus 로고
    • Small, beautiful and essential
    • Grivell L. Small, beautiful and essential. Nature 341 (1989) 569-571
    • (1989) Nature , vol.341 , pp. 569-571
    • Grivell, L.1
  • 177
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S., Banker A., and Barrell B. Sequence and organization of the human mitochondrial genome. Nature 290 (1981) 457-465
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Banker, A.2    Barrell, B.3
  • 178
    • 0023003310 scopus 로고
    • The clinical features of mitochondrial myopathy
    • Petty R., Harding A., and Morgan-Hughes J. The clinical features of mitochondrial myopathy. Brain 109 (1986) 915-938
    • (1986) Brain , vol.109 , pp. 915-938
    • Petty, R.1    Harding, A.2    Morgan-Hughes, J.3
  • 180
    • 0035096954 scopus 로고    scopus 로고
    • Mitochondrial myopathies and the role of the pathologist in the molecular era
    • Vogel H. Mitochondrial myopathies and the role of the pathologist in the molecular era. J Neuropathol Exp Neurol 60 (2001) 217-227
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 217-227
    • Vogel, H.1
  • 181
    • 0023915528 scopus 로고
    • Complexity and tissue specificity of the mitochondrial respiratory chain
    • Capaldi R., Halphen D., Zhang Y., and Yanamura W. Complexity and tissue specificity of the mitochondrial respiratory chain. J Bioenerg Biomembr 20 (1988) 291-311
    • (1988) J Bioenerg Biomembr , vol.20 , pp. 291-311
    • Capaldi, R.1    Halphen, D.2    Zhang, Y.3    Yanamura, W.4
  • 182
    • 0025004427 scopus 로고
    • Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy
    • Ozawa T., Tanaka M., Sugiyama S., et al. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 170 (1990) 830-836
    • (1990) Biochem Biophys Res Commun , vol.170 , pp. 830-836
    • Ozawa, T.1    Tanaka, M.2    Sugiyama, S.3
  • 183
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • Scaglia F., Towbin J., Craigen W., et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114 (2004) 925-931
    • (2004) Pediatrics , vol.114 , pp. 925-931
    • Scaglia, F.1    Towbin, J.2    Craigen, W.3
  • 186
    • 0024328462 scopus 로고    scopus 로고
    • CT Moraes, S DiMauro, M Zeviani, et-al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome, N Engl J Med, 320, 1293-1299.
    • CT Moraes, S DiMauro, M Zeviani, et-al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome, N Engl J Med, 320, 1293-1299.
  • 187
    • 0024321834 scopus 로고
    • Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome
    • Moraes C., Schon E., DiMauro S., and Miranda A. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biopsy Res Commun 160 (1989) 765-771
    • (1989) Biochem Biopsy Res Commun , vol.160 , pp. 765-771
    • Moraes, C.1    Schon, E.2    DiMauro, S.3    Miranda, A.4
  • 190
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
    • Shoffner J., Lott M., Lezza A., Seibel P., Ballinger S., and Wallace D. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61 (1990) 931-937
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.1    Lott, M.2    Lezza, A.3    Seibel, P.4    Ballinger, S.5    Wallace, D.6
  • 191
  • 192
    • 0026688649 scopus 로고
    • A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Silvestri G., Moraes C., Shanske S., Oh S., and DiMauro S. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51 (1992) 1213-1217
    • (1992) Am J Hum Genet , vol.51 , pp. 1213-1217
    • Silvestri, G.1    Moraes, C.2    Shanske, S.3    Oh, S.4    DiMauro, S.5
  • 193
    • 40949133525 scopus 로고
    • Clinicopathologic features of MERRF
    • J Pediatr 124:224-228
    • Fukuhara N. Clinicopathologic features of MERRF. Muscle Nerve 3 (1995) 590-594 J Pediatr 124:224-228
    • (1995) Muscle Nerve , vol.3 , pp. 590-594
    • Fukuhara, N.1
  • 194
    • 0344844423 scopus 로고    scopus 로고
    • Clinical characterization of left ventricular noncompaction in children. A relatively common form of cardiomyopathy
    • Pignatelli R., McMahon C., Dreyer W., et al. Clinical characterization of left ventricular noncompaction in children. A relatively common form of cardiomyopathy. Circulation 108 (2003) 2672-2678
    • (2003) Circulation , vol.108 , pp. 2672-2678
    • Pignatelli, R.1    McMahon, C.2    Dreyer, W.3
  • 195
    • 0025106446 scopus 로고
    • Isolated noncompaction of left ventricular myocardium. A study of eight cases
    • Chin T., Perloff J., Williams R., Jue K., and Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 82 (1990) 507-513
    • (1990) Circulation , vol.82 , pp. 507-513
    • Chin, T.1    Perloff, J.2    Williams, R.3    Jue, K.4    Mohrmann, R.5
  • 196
    • 0037108211 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders
    • Stollberger C., Finsterer J., and Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 90 (2002) 899-902
    • (2002) Am J Cardiol , vol.90 , pp. 899-902
    • Stollberger, C.1    Finsterer, J.2    Blazek, G.3
  • 197
    • 17044449684 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction
    • Stollberger C., and Finsterer J. Left ventricular hypertrabeculation/noncompaction. J Am Soc Echocardiogr 17 (2004) 91-100
    • (2004) J Am Soc Echocardiogr , vol.17 , pp. 91-100
    • Stollberger, C.1    Finsterer, J.2
  • 198
    • 0033165683 scopus 로고    scopus 로고
    • Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties and genetic background
    • Ichida F., Hamamichi Y., Miyawaki T., et al. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties and genetic background. J Am Coll Cardiol 34 (1999) 233-240
    • (1999) J Am Coll Cardiol , vol.34 , pp. 233-240
    • Ichida, F.1    Hamamichi, Y.2    Miyawaki, T.3
  • 199
    • 0035814967 scopus 로고    scopus 로고
    • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
    • Ichida F., Tsubata S., Bowles K., et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103 (2001) 1256-1263
    • (2001) Circulation , vol.103 , pp. 1256-1263
    • Ichida, F.1    Tsubata, S.2    Bowles, K.3
  • 200
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • Vatta M., Mohapatra B., Jimenez S., et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 42 (2003) 2014-2027
    • (2003) J Am Coll Cardiol , vol.42 , pp. 2014-2027
    • Vatta, M.1    Mohapatra, B.2    Jimenez, S.3


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