메뉴 건너뛰기




Volumn 14, Issue 12, 2013, Pages 837-861

Skeletal muscle involvement in cardiomyopathies

Author keywords

Cardiomyopathies; Neuromuscular disorders; Subclinical skeletal muscle involvement

Indexed keywords

CREATINE KINASE; DELTA SARCOGLYCAN; DYSTROPHIN;

EID: 84890130028     PISSN: 15582027     EISSN: 15582035     Source Type: Journal    
DOI: 10.2459/JCM.0b013e3283641c69     Document Type: Article
Times cited : (19)

References (144)
  • 2
    • 33750121615 scopus 로고    scopus 로고
    • Incidence, causes, and outcomes of dilated cardiomyopathy in children
    • Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 2006; 296:1867-1876.
    • (2006) JAMA , vol.296 , pp. 1867-1876
    • Towbin, J.A.1    Lowe, A.M.2    Colan, S.D.3
  • 3
    • 0029838265 scopus 로고    scopus 로고
    • Clinical approach to genetic cardiomyopathy in children
    • Schwartz ML, Cox GF, Lin AE, et al. Clinical approach to genetic cardiomyopathy in children. Circulation 1996; 94:2021-2038.
    • (1996) Circulation , vol.94 , pp. 2021-2038
    • Schwartz, M.L.1    Cox, G.F.2    Lin, A.E.3
  • 4
    • 84883723377 scopus 로고    scopus 로고
    • Genetic spectrum of cardiomyopathies with neuromuscular phenotype
    • Kostareva A, Sejersen T, Sjoberg G. Genetic spectrum of cardiomyopathies with neuromuscular phenotype. Front Biosci (Schol Ed) 2013; 5:325-340.
    • (2013) Front Biosci (Schol Ed) , vol.5 , pp. 325-340
    • Kostareva, A.1    Sejersen, T.2    Sjoberg, G.3
  • 5
    • 78650224404 scopus 로고    scopus 로고
    • End-stage cardiac disease as an initial presentation of systemic myopathies: Case series and literature review
    • Katzberg H, Karamchandani J, So YT, et al. End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. J Child Neurol 2010; 25:1382-1388.
    • (2010) J Child Neurol , vol.25 , pp. 1382-1388
    • Katzberg, H.1    Karamchandani, J.2    So, Y.T.3
  • 6
    • 79953842000 scopus 로고    scopus 로고
    • Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy
    • Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57:1641-1649.
    • (2011) J Am Coll Cardiol , vol.57 , pp. 1641-1649
    • Hershberger, R.E.1    Siegfried, J.D.2
  • 7
    • 42649101980 scopus 로고    scopus 로고
    • Left ventricular noncompaction in a patient with myotonic dystrophy type 2
    • Wahbi K, Meune C, Bassez G, et al. Left ventricular noncompaction in a patient with myotonic dystrophy type 2. Neuromuscul Disord 2008; 18:331-333.
    • (2008) Neuromuscul Disord , vol.18 , pp. 331-333
    • Wahbi, K.1    Meune, C.2    Bassez, G.3
  • 8
    • 84865210197 scopus 로고    scopus 로고
    • Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 1 is caused by a des mutation
    • Hedberg C, Melberg A, Kuhl A, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 1 is caused by a DES mutation. Eur J Hum Genet 2012; 20:984-985.
    • (2012) Eur J Hum Genet , vol.20 , pp. 984-985
    • Hedberg, C.1    Melberg, A.2    Kuhl, A.3
  • 9
    • 75149193878 scopus 로고    scopus 로고
    • Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
    • Limongelli G, Tome-Esteban M, Dejthevaporn C, et al. Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease. Eur J Heart Fail 2010; 12:114-121.
    • (2010) Eur J Heart Fail , vol.12 , pp. 114-121
    • Limongelli, G.1    Tome-Esteban, M.2    Dejthevaporn, C.3
  • 10
    • 84860295661 scopus 로고    scopus 로고
    • Mitochondrial diseases and the heart: An overview of molecular basis, diagnosis, treatment and clinical course
    • Limongelli G, Masarone D, D'Alessandro R, Elliott PM. Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course. Future Cardiol 2012; 8:71-88.
    • (2012) Future Cardiol , vol.8 , pp. 71-88
    • Limongelli, G.1    Masarone, D.2    D'alessandro, R.3    Elliott, P.M.4
  • 11
    • 84890118122 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 310200: World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 310200: World Wide Web URL: http://omim.org/.
  • 12
    • 2942718848 scopus 로고    scopus 로고
    • Cardiac function tests in neuromuscular diseases
    • vi
    • Bhakta D, Groh WJ. Cardiac function tests in neuromuscular diseases. Neurol Clin 2004; 22:591-617; vi.
    • (2004) Neurol Clin , vol.22 , pp. 591-617
    • Bhakta, D.1    Groh, W.J.2
  • 13
    • 0037304994 scopus 로고    scopus 로고
    • 107th ENMC international workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
    • Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, The Netherlands. Neuromuscul Disord 2003; 13:166-172.
    • (2003) Neuromuscul Disord , vol.13 , pp. 166-172
    • Bushby, K.1    Muntoni, F.2    Bourke, J.P.3
  • 14
    • 84890116246 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 300376. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 300376. World Wide Web URL: http://omim.org/
  • 16
    • 77649185345 scopus 로고    scopus 로고
    • Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2009; 2:253-261.
    • (2009) Circ Heart Fail , vol.2 , pp. 253-261
    • Hershberger, R.E.1    Cowan, J.2    Morales, A.3    Siegfried, J.D.4
  • 18
    • 84890115952 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 607155. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 607155. World Wide Web URL: http://omim.org/
  • 19
    • 84890123106 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 158900. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 158900. World Wide Web URL: http://omim.org/
  • 20
    • 0031743597 scopus 로고    scopus 로고
    • Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy
    • Laforêt P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998; 51:1454-1456.
    • (1998) Neurology , vol.51 , pp. 1454-1456
    • Laforêt, P.1    De Toma, C.2    Eymard, B.3
  • 21
    • 84890115359 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 160900. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 160900. World Wide Web URL: http://omim.org/
  • 22
    • 0030785476 scopus 로고    scopus 로고
    • Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy
    • Colleran JA, Hawley RJ, Pinnow EE, et al. Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy. Am J Cardiol 1997; 80:1494-1497.
    • (1997) Am J Cardiol , vol.80 , pp. 1494-1497
    • Colleran, J.A.1    Hawley, R.J.2    Pinnow, E.E.3
  • 23
    • 84890126208 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 602668. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 602668. World Wide Web URL: http://omim.org/
  • 24
    • 8744295714 scopus 로고    scopus 로고
    • Myotonic dystrophy type 1 and related myotonic disorders
    • Meola G, Moxley RT 3rd. Myotonic dystrophy type 1 and related myotonic disorders. J Neurol 2004; 251:1173-1182.
    • (2004) J Neurol , vol.251 , pp. 1173-1182
    • Meola, G.1    Moxley III, R.T.2
  • 25
    • 84890116771 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 181350. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 181350. World Wide Web URL: http://omim.org/
  • 26
    • 84890127966 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 159001. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 159001. World Wide Web URL: http://omim.org/
  • 27
    • 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 1999; 341:1715-1724.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    Macrae, C.2    Sasaki, T.3
  • 28
    • 0037383576 scopus 로고    scopus 로고
    • Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: A long-term longitudinal study
    • Boriani G, Gallina M, Merlini L, et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003; 34:901-908.
    • (2003) Stroke , vol.34 , pp. 901-908
    • Boriani, G.1    Gallina, M.2    Merlini, L.3
  • 29
    • 84890123343 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 300384. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 300384. World Wide Web URL: http://omim.org/
  • 30
    • 84890127636 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 300163. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 300163. World Wide Web URL: http://omim.org/
  • 31
    • 33646049669 scopus 로고    scopus 로고
    • Genotype: Phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
    • Bos JM, Poley RN, Ny M, et al. Genotype: phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab 2006; 88:78-85.
    • (2006) Mol Genet Metab , vol.88 , pp. 78-85
    • Bos, J.M.1    Poley, R.N.2    Ny, M.3
  • 32
    • 84890118878 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 118220. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 118220. World Wide Web URL: http://omim.org/
  • 33
    • 84890124984 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 118210. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 118210. World Wide Web URL: http://omim.org/
  • 34
    • 84890114782 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 302800. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 302800. World Wide Web URL: http://omim.org/
  • 35
    • 33645473866 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
    • Corrado G, Checcarelli N, Santarone M, et al. Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. Cardiology 2006; 105:142-145.
    • (2006) Cardiology , vol.105 , pp. 142-145
    • Corrado, G.1    Checcarelli, N.2    Santarone, M.3
  • 36
    • 84890129755 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 601419. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 601419. World Wide Web URL: http://omim.org/
  • 37
    • 84890116081 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 608810. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 608810. World Wide Web URL: http://omim.org/
  • 38
    • 84890116901 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 609200 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 609200 . World Wide Web URL: http://omim.org/
  • 39
    • 84890118100 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 612954. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 612954. World Wide Web URL: http://omim.org/
  • 40
    • 81255197001 scopus 로고    scopus 로고
    • Dilated cardiomyopathyassociated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes
    • Arimura T, Ishikawa T, Nunoda S, et al. Dilated cardiomyopathyassociated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum Mutat 2011; 32:1481-1491.
    • (2011) Hum Mutat , vol.32 , pp. 1481-1491
    • Arimura, T.1    Ishikawa, T.2    Nunoda, S.3
  • 41
    • 84890128433 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 160500 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 160500 . World Wide Web URL: http://omim.org/
  • 42
    • 77957956350 scopus 로고    scopus 로고
    • MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
    • Muelas N, Hackman P, Luque H, et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 2010; 75:732-741.
    • (2010) Neurology , vol.75 , pp. 732-741
    • Muelas, N.1    Hackman, P.2    Luque, H.3
  • 43
    • 84890118307 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 600334 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 600334 . World Wide Web URL: http://omim.org/
  • 44
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002; 30:201-204.
    • (2002) Nat Genet , vol.30 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3
  • 46
    • 0141924531 scopus 로고    scopus 로고
    • The role of titin in muscular disorders
    • Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. Ann Med 2003; 35:434-441.
    • (2003) Ann Med , vol.35 , pp. 434-441
    • Hackman, J.P.1    Vihola, A.K.2    Udd, A.B.3
  • 47
    • 84890123805 scopus 로고    scopus 로고
    • OMIM: #605820 Nonaka Myopathy
    • OMIM: #605820 Nonaka Myopathy
  • 48
    • 56049109762 scopus 로고    scopus 로고
    • Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles
    • Malicdan MC, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
    • (2008) Neurol India , vol.56 , pp. 314-324
    • Malicdan, M.C.1    Nonaka, I.2
  • 49
    • 84890117582 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 229300 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 229300 . World Wide Web URL: http://omim.org/
  • 50
    • 33744828270 scopus 로고    scopus 로고
    • Neuromuscular implications in left ventricular hypertrabeculation/ noncompaction
    • Finsterer J, Stöllberger C, Blazek G. Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol 2006; 110:288-300.
    • (2006) Int J Cardiol , vol.110 , pp. 288-300
    • Finsterer, J.1    Stöllberger, C.2    Blazek, G.3
  • 51
    • 85026171376 scopus 로고    scopus 로고
    • Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
    • [author reply 5; discussion 5]
    • Rustin P, Bonnet D, Rotig A, et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2004; 62:524-525; [author reply 5; discussion 5].
    • (2004) Neurology , vol.62 , pp. 524-525
    • Rustin, P.1    Bonnet, D.2    Rotig, A.3
  • 52
    • 2542556601 scopus 로고    scopus 로고
    • Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
    • Seznec H, Simon D, Monassier L, et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 2004; 13:1017-1024.
    • (2004) Hum Mol Genet , vol.13 , pp. 1017-1024
    • Seznec, H.1    Simon, D.2    Monassier, L.3
  • 53
    • 84890123715 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 232300. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 232300. World Wide Web URL: http://omim.org/
  • 54
    • 84890122558 scopus 로고    scopus 로고
    • Molecular basis and clinical management of Pompe disease
    • Parenti G, Di Iorio G, Sampaolo S, et al. Molecular basis and clinical management of Pompe disease. Cardiogenetics 2013; 3:e5.
    • (2013) Cardiogenetics , vol.3
    • Parenti, G.1    Di Iorio, G.2    Sampaolo, S.3
  • 55
    • 84890124938 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 602743 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 602743 . World Wide Web URL: http://omim.org/
  • 56
    • 20044391423 scopus 로고    scopus 로고
    • Adenosine monophosphateactivated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: Natural history
    • Murphy RT, Mogensen J, McGarry K, et al. Adenosine monophosphateactivated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol 2005; 45:922-930.
    • (2005) J Am Coll Cardiol , vol.45 , pp. 922-930
    • Murphy, R.T.1    Mogensen, J.2    McGarry, K.3
  • 57
    • 84890116305 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 232400 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 232400 . World Wide Web URL: http://omim.org/
  • 58
    • 0027049711 scopus 로고
    • Glycogen storage disease type III (glycogen debranching enzyme deficiency): Correlation of biochemical defects with myopathy and cardiomyopathy
    • Coleman RA, Winter HS, Wolf B, et al. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 1992; 116:896-900.
    • (1992) Ann Intern Med , vol.116 , pp. 896-900
    • Coleman, R.A.1    Winter, H.S.2    Wolf, B.3
  • 59
    • 84890130447 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 300257 . World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM. World Wide Web URL: http://omim.org/Number:300257
  • 60
    • 24944575163 scopus 로고    scopus 로고
    • Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children
    • Yang Z, McMahon CJ, Smith LR, et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation 2005; 112:1612-1617.
    • (2005) Circulation , vol.112 , pp. 1612-1617
    • Yang, Z.1    McMahon, C.J.2    Smith, L.R.3
  • 61
    • 63349109161 scopus 로고    scopus 로고
    • Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy
    • Maron BJ, Roberts WC, Arad M, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009; 301:1253-1259.
    • (2009) JAMA , vol.301 , pp. 1253-1259
    • Maron, B.J.1    Roberts, W.C.2    Arad, M.3
  • 62
    • 84890124346 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 212138. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 212138. World Wide Web URL: http://omim.org/
  • 63
    • 84890118222 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 608836. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 608836. World Wide Web URL: http://omim.org/
  • 65
    • 84890128009 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 302060. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 302060. World Wide Web URL: http://omim.org/
  • 67
    • 33748424435 scopus 로고    scopus 로고
    • Cardiac and clinical phenotype in Barth syndrome
    • Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006; 118:e337-e346.
    • (2006) Pediatrics , vol.118
    • Spencer, C.T.1    Bryant, R.M.2    Day, J.3
  • 68
    • 84890124570 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 102770. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 102770. World Wide Web URL: http://omim.org/
  • 69
    • 0030969651 scopus 로고    scopus 로고
    • Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
    • Gross M. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. J Inherit Metab Dis 1997; 20:186-192.
    • (1997) J Inherit Metab Dis , vol.20 , pp. 186-192
    • Gross, M.1
  • 70
    • 84890119437 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 545000. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 545000. World Wide Web URL: http://omim.org/
  • 71
    • 84890127611 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 540000. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 540000. World Wide Web URL: http://omim.org/
  • 72
    • 84890121227 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 535000. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 535000. World Wide Web URL: http://omim.org/
  • 73
    • 84890116488 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 551500. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 551500. World Wide Web URL: http://omim.org/
  • 74
    • 84890116904 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, MD. MIM Number: 530000. World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD. MIM Number: 530000. World Wide Web URL: http://omim.org/
  • 75
    • 79960564849 scopus 로고    scopus 로고
    • How do mutations in contractile proteins cause the primary familial cardiomyopathies?
    • Marston SB. How do mutations in contractile proteins cause the primary familial cardiomyopathies? J Cardiovasc Transl Res 2011; 4:245-255.
    • (2011) J Cardiovasc Transl Res , vol.4 , pp. 245-255
    • Marston, S.B.1
  • 76
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction
    • Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction. J Am Coll Cardiol 2003; 42:2014-2027.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 2014-2027
    • Vatta, M.1    Mohapatra, B.2    Jimenez, S.3
  • 77
    • 2342621479 scopus 로고    scopus 로고
    • The dystrophin glycoprotein complex: Signaling strength and integrity for the sarcolemma
    • Lapidos KA, Kakkar R, McNally EM. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res 2004; 94:1023-1031.
    • (2004) Circ Res , vol.94 , pp. 1023-1031
    • Lapidos, K.A.1    Kakkar, R.2    McNally, E.M.3
  • 78
    • 75149187810 scopus 로고    scopus 로고
    • Cardiac manifestations of neuromuscular disorders in children
    • Hsu DT. Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev 2010; 11:35-38.
    • (2010) Paediatr Respir Rev , vol.11 , pp. 35-38
    • Hsu, D.T.1
  • 79
    • 84890125862 scopus 로고    scopus 로고
    • Phenotypic spectrum of mutations in cardiolaminopathies
    • Marian AJ. Phenotypic spectrum of mutations in cardiolaminopathies. Cardiogenetics 2011; 1:e6.
    • (2011) Cardiogenetics , vol.1
    • Marian, A.J.1
  • 80
    • 0242522154 scopus 로고    scopus 로고
    • American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines
    • Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology
    • Maron BJ, McKenna WJ, Danielson GK, et al., Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003; 42:1687-1713.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 1687-1713
    • Maron, B.J.1    McKenna, W.J.2    Danielson, G.K.3
  • 81
    • 13944269529 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells
    • Kirschner SE, Becker E, Antognozzi M, et al. Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells. Am J Physiol Heart Circ Physiol 2005; 288:H1242-H1251.
    • (2005) Am J Physiol Heart Circ Physiol , vol.288
    • Kirschner, S.E.1    Becker, E.2    Antognozzi, M.3
  • 83
    • 0031428848 scopus 로고    scopus 로고
    • Isolated noncompaction of the myocardium in adults
    • Ritter M, Oechslin E, Sutsch G, et al. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc 1997; 72:26-31.
    • (1997) Mayo Clin Proc , vol.72 , pp. 26-31
    • Ritter, M.1    Oechslin, E.2    Sutsch, G.3
  • 86
    • 44649118695 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes in left ventricular noncompaction
    • Klaassen S, Probst S, Oechslin E, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008; 117:2893-2901.
    • (2008) Circulation , vol.117 , pp. 2893-2901
    • Klaassen, S.1    Probst, S.2    Oechslin, E.3
  • 87
    • 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 BJ, Towbin JA, 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 2006; 113:1807-1816.
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 88
    • 79551493005 scopus 로고    scopus 로고
    • Isolated left ventricular noncompaction in adults: Clinical and echocardiographic features in 105 patients. Results from a French registry
    • Working Groups 'Heart Failure and Cardiomyopathies' and 'Echocardiography' of the French Society of Cardiology
    • Habib G, Charron P, Eicher JC, et al., Working Groups 'Heart Failure and Cardiomyopathies' and 'Echocardiography' of the French Society of Cardiology. Isolated left ventricular noncompaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry. Eur J Heart Fail 2011; 13:177-185.
    • (2011) Eur J Heart Fail , vol.13 , pp. 177-185
    • Habib, G.1    Charron, P.2    Eicher, J.C.3
  • 89
    • 44849126424 scopus 로고    scopus 로고
    • Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction
    • Xia S, Wang H, Zhang X, et al. Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction. Intern Med 2008; 47:577-583.
    • (2008) Intern Med , vol.47 , pp. 577-583
    • Xia, S.1    Wang, H.2    Zhang, X.3
  • 90
    • 77955880540 scopus 로고    scopus 로고
    • The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
    • Hoedemaekers YM, Caliskan K, Michels M, et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet 2010; 3:232-239.
    • (2010) Circ Cardiovasc Genet , vol.3 , pp. 232-239
    • Hoedemaekers, Y.M.1    Caliskan, K.2    Michels, M.3
  • 91
    • 84884213497 scopus 로고    scopus 로고
    • Familal left ventricular hypertrabeculation (noncompaction) is myopathic
    • Finsterer J, Stöllberger C, Blazek G, Sehnal E. Familal left ventricular hypertrabeculation (noncompaction) is myopathic. Int J Cardiol 2013; 164:312-317.
    • (2013) Int J Cardiol , vol.164 , pp. 312-317
    • Finsterer, J.1    Stöllberger, C.2    Blazek, G.3    Sehnal, E.4
  • 93
    • 10644283181 scopus 로고    scopus 로고
    • Frequency and clinical expression of cardiac troponin i mutations in 748 consecutive families with hypertrophic cardiomyopathy
    • Mogensen J, Murphy RT, Kubo T, et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44:2315-2325.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2315-2325
    • Mogensen, J.1    Murphy, R.T.2    Kubo, T.3
  • 94
    • 34250779383 scopus 로고    scopus 로고
    • Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype
    • Kubo T, Gimeno JR, Bahl A, et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 2007; 49:2419-2426.
    • (2007) J Am Coll Cardiol , vol.49 , pp. 2419-2426
    • Kubo, T.1    Gimeno, J.R.2    Bahl, A.3
  • 95
    • 54449102251 scopus 로고    scopus 로고
    • Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
    • Kaski JP, Syrris P, Burch M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008; 94:1478-1484.
    • (2008) Heart , vol.94 , pp. 1478-1484
    • Kaski, J.P.1    Syrris, P.2    Burch, M.3
  • 96
    • 84879503706 scopus 로고    scopus 로고
    • Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes
    • Gudkova A, Kostareva A, Sjoberg G, et al. Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. Pediatr Cardiol 2013; 34:467-470.
    • (2013) Pediatr Cardiol , vol.34 , pp. 467-470
    • Gudkova, A.1    Kostareva, A.2    Sjoberg, G.3
  • 97
    • 38949159633 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Thiene G, Corrado D, Basso C. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Orphanet J Rare Dis 2007; 2:45.
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 45
    • Thiene, G.1    Corrado, D.2    Basso, C.3
  • 98
    • 35548997132 scopus 로고    scopus 로고
    • Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007; 50:1813-1821.
    • (2007) J Am Coll Cardiol , vol.50 , pp. 1813-1821
    • Sen-Chowdhry, S.1    Syrris, P.2    McKenna, W.J.3
  • 99
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355:2119-2124.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3
  • 100
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9:2761-2766.
    • (2000) Hum Mol Genet , vol.9 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3
  • 101
    • 79952537763 scopus 로고    scopus 로고
    • Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia
    • Corrado D, Basso C, Pilichou K, Thiene G. Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart 2011; 97:530-539.
    • (2011) Heart , vol.97 , pp. 530-539
    • Corrado, D.1    Basso, C.2    Pilichou, K.3    Thiene, G.4
  • 102
    • 33745848407 scopus 로고    scopus 로고
    • Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy
    • Garcia-Gras E, Lombardi R, Giocondo MJ, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest 2006; 116:2012-2021.
    • (2006) J Clin Invest , vol.116 , pp. 2012-2021
    • Garcia-Gras, E.1    Lombardi, R.2    Giocondo, M.J.3
  • 103
    • 0032701867 scopus 로고    scopus 로고
    • Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
    • Melberg A, Oldfors A, Blomstrom-Lundqvist C, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999; 46:684-692.
    • (1999) Ann Neurol , vol.46 , pp. 684-692
    • Melberg, A.1    Oldfors, A.2    Blomstrom-Lundqvist, C.3
  • 104
    • 39749125673 scopus 로고    scopus 로고
    • Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: Corroboration and narrowing of the critical region on 10q22
    • Kuhl A, Melberg A, Meinl E, et al. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet 2008; 16:367-373.
    • (2008) 3. Eur J Hum Genet , vol.16 , pp. 367-373
    • Kuhl, A.1    Melberg, A.2    Meinl, E.3
  • 105
    • 0015107077 scopus 로고
    • Electromyography in patients with hypertrophic obstructive cardiomyopathy
    • Hootsmans WJM, Meerschwam IS. Electromyography in patients with hypertrophic obstructive cardiomyopathy. Neurology 1971; 21:810-816.
    • (1971) Neurology , vol.21 , pp. 810-816
    • Hootsmans, W.J.M.1    Meerschwam, I.S.2
  • 106
    • 0015306198 scopus 로고
    • Skeletal muscle in idiopathic cardiomyopathy
    • Shafig SA, Sande MA, Carruthers RR, et al. Skeletal muscle in idiopathic cardiomyopathy. J Neurol Sci 1972; 15:303-320.
    • (1972) J Neurol Sci , vol.15 , pp. 303-320
    • Shafig, S.A.1    Sande, M.A.2    Carruthers, R.R.3
  • 108
    • 0024416207 scopus 로고
    • Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: Evidence of subclinical myogenic myopathy
    • Caforio AL, Rossi B, Risaliti R, et al. Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol 1989; 14:1464-1473.
    • (1989) J Am Coll Cardiol , vol.14 , pp. 1464-1473
    • Caforio, A.L.1    Rossi, B.2    Risaliti, R.3
  • 109
    • 0033646473 scopus 로고    scopus 로고
    • Electromyographic evidence of subclinical myopathy in hypertrophic cardiomyopathy
    • Karandreas N, Stathis P, Anastasakis A, et al. Electromyographic evidence of subclinical myopathy in hypertrophic cardiomyopathy. Muscle Nerve 2000; 23:1856-1861.
    • (2000) Muscle Nerve , vol.23 , pp. 1856-1861
    • Karandreas, N.1    Stathis, P.2    Anastasakis, A.3
  • 110
    • 0027221634 scopus 로고
    • Missense mutations in the bmyosin heavy-chain gene causes central core disease in hypertrophic cardiomyopathy
    • Fananapazir L, Dalakas MC, Cyran F, et al. Missense mutations in the bmyosin heavy-chain gene causes central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A 1993; 90:3993-3997.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 3993-3997
    • Fananapazir, L.1    Dalakas, M.C.2    Cyran, F.3
  • 111
    • 0037722719 scopus 로고    scopus 로고
    • Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics
    • Anastasakis A, Karandreas N, Stathis P, et al. Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics. Int J Cardiol 2003; 89:249-256.
    • (2003) Int J Cardiol , vol.89 , pp. 249-256
    • Anastasakis, A.1    Karandreas, N.2    Stathis, P.3
  • 112
    • 17144455726 scopus 로고    scopus 로고
    • Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32
    • Onengüt S, Uǧur SA, Karasoy H, et al. Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. Neuromuscul Disord 2004; 14:4-9.
    • (2004) Neuromuscul Disord , vol.14 , pp. 4-9
    • Onengüt, S.1    Uǧur, S.A.2    Karasoy, H.3
  • 113
    • 34047117882 scopus 로고    scopus 로고
    • MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
    • Pegoraro E, Gavassini BF, Borsato C, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord 2007; 17:321-329.
    • (2007) Neuromuscul Disord , vol.17 , pp. 321-329
    • Pegoraro, E.1    Gavassini, B.F.2    Borsato, C.3
  • 114
    • 79952759319 scopus 로고    scopus 로고
    • A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
    • Ortolano S, Tarrío R, Blanco-Arias P, et al. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord 2011; 21:254-262.
    • (2011) Neuromuscul Disord , vol.21 , pp. 254-262
    • Ortolano, S.1    Tarrío, R.2    Blanco-Arias, P.3
  • 115
    • 84870391271 scopus 로고    scopus 로고
    • Mutations in MYH7 cause Multiminicore Disease (MmD) with variable cardiac involvement
    • Cullup T, Lamont PJ, Cirak S, et al. Mutations in MYH7 cause Multiminicore Disease (MmD) with variable cardiac involvement. Neuromuscul Disord 2012; 22:1096-1104.
    • (2012) Neuromuscul Disord , vol.22 , pp. 1096-1104
    • Cullup, T.1    Lamont, P.J.2    Cirak, S.3
  • 116
    • 44649192645 scopus 로고    scopus 로고
    • ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines
    • (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): Developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons
    • Epstein AE, DiMarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation 2008; 117:e350-e408.
    • (2008) Circulation , vol.117
    • Epstein, A.E.1    Dimarco, J.P.2    Ellenbogen, K.A.3
  • 117
    • 84890130004 scopus 로고    scopus 로고
    • The genetics of heart failure
    • Oxford: Oxford University Press
    • Limongelli G, Elliott P. The genetics of heart failure. Oxford Textbook of Heart Failure. Oxford: Oxford University Press; 2011. Vol. 5. pp. 39-54.
    • (2011) Oxford Textbook of Heart Failure , vol.5 , pp. 39-54
    • Limongelli, G.1    Elliott, P.2
  • 119
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial managemen
    • DMD Care Considerations Working Group
    • Bushby K, Finkel R, Birnkrant DJ, et al., DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial managemen. Lancet Neurol 2010; 9:77-93.
    • (2010) Lancet Neurol , vol.9 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3
  • 120
    • 84868617316 scopus 로고    scopus 로고
    • Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene
    • Binder JS, Weidemann F, Schoser B, et al. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet 2012; 5:490-502.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 490-502
    • Binder, J.S.1    Weidemann, F.2    Schoser, B.3
  • 121
    • 77956392191 scopus 로고    scopus 로고
    • Myofibrillar myopathies
    • Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2010; 23:477-481.
    • (2010) Curr Opin Neurol , vol.23 , pp. 477-481
    • Selcen, D.1
  • 122
    • 80052186988 scopus 로고    scopus 로고
    • A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
    • Villard E, Perret C, Gary F, et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J 2011; 32:1065-1076.
    • (2011) Eur Heart J , vol.32 , pp. 1065-1076
    • Villard, E.1    Perret, C.2    Gary, F.3
  • 123
    • 35848949074 scopus 로고    scopus 로고
    • The role of endomyocardial biopsy in the management of cardiovascular disease: A scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology
    • American Heart Association; American College of Cardiology; European Society of Cardiology
    • Cooper LT, Baughman KL, Feldman AM, et al., American Heart Association; American College of Cardiology; European Society of Cardiology. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Circulation 2007; 116:2216-2233.
    • (2007) Circulation , vol.116 , pp. 2216-2233
    • Cooper, L.T.1    Baughman, K.L.2    Feldman, A.M.3
  • 124
    • 79952150967 scopus 로고    scopus 로고
    • Cardiac involvement in patients with muscular dystrophies: Magnetic resonance imaging phenotype and genotypic considerations
    • Verhaert D, Richards K, Rafael-Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging 2011; 4:67-76.
    • (2011) Circ Cardiovasc Imaging , vol.4 , pp. 67-76
    • Verhaert, D.1    Richards, K.2    Rafael-Fortney, J.A.3    Raman, S.V.4
  • 125
    • 77957860016 scopus 로고    scopus 로고
    • Neuromuscular imaging in inherited muscle diseases
    • Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010; 20:2447-2460.
    • (2010) Eur Radiol , vol.20 , pp. 2447-2460
    • Wattjes, M.P.1    Kley, R.A.2    Fischer, D.3
  • 126
    • 30444446953 scopus 로고    scopus 로고
    • Primary prevention of sudden death in patients with lamin A/C gene mutations
    • Meune C, Van Berlo JH, Anselme F, et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006; 354:209-210.
    • (2006) N Engl J Med , vol.354 , pp. 209-210
    • Meune, C.1    Van Berlo, J.H.2    Anselme, F.3
  • 127
    • 52949111684 scopus 로고    scopus 로고
    • Long-term outcome and risk stratification in dilated cardiolaminopathies
    • Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008; 52:1250-1260.
    • (2008) J Am Coll Cardiol , vol.52 , pp. 1250-1260
    • Pasotti, M.1    Klersy, C.2    Pilotto, A.3
  • 128
    • 84884489700 scopus 로고    scopus 로고
    • Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
    • Van Rijsingen IA, Nannenberg EA, Arbustini E, et al. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail 2013; 15:376-384.
    • (2013) Eur J Heart Fail , vol.15 , pp. 376-384
    • Van Rijsingen, I.A.1    Nannenberg, E.A.2    Arbustini, E.3
  • 129
    • 84856194138 scopus 로고    scopus 로고
    • Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study
    • van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012; 59:493-500.
    • (2012) J Am Coll Cardiol , vol.59 , pp. 493-500
    • Van Rijsingen, I.A.1    Arbustini, E.2    Elliott, P.M.3
  • 130
    • 0038187688 scopus 로고    scopus 로고
    • Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring
    • Buyse G, Mertens L, Di Salvo G, et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 2003; 60:1679-1681.
    • (2003) Neurology , vol.60 , pp. 1679-1681
    • Buyse, G.1    Mertens, L.2    Di Salvo, G.3
  • 131
    • 79953753153 scopus 로고    scopus 로고
    • Cardiomyopathy of Friedreich's ataxia: Use of mouse models to understand human disease and guide therapeutic development
    • doi: 10.1007/s00246-011-9943-6
    • Payne RM, Pride PM, Babbey CM. Cardiomyopathy of Friedreich's ataxia: use of mouse models to understand human disease and guide therapeutic development. Pediatr Cardiol 2011; 32:366-378; doi: 10.1007/s00246-011-9943-6.
    • (2011) Pediatr Cardiol , vol.32 , pp. 366-378
    • Payne, R.M.1    Pride, P.M.2    Babbey, C.M.3
  • 132
    • 79955468608 scopus 로고    scopus 로고
    • The heart in Friedreich's ataxia: Basic findings and clinical implications
    • Payne RM. The heart in Friedreich's ataxia: basic findings and clinical implications. Prog Pediatr Cardiol 2011; 31:103-109.
    • (2011) Prog Pediatr Cardiol , vol.31 , pp. 103-109
    • Payne, R.M.1
  • 133
    • 77953256203 scopus 로고    scopus 로고
    • Friedreich's ataxia cardiomyopathy: Case based discussion and management issues
    • Hanley A, Corrigan R, Mohammad S, MacMahon B. Friedreich's ataxia cardiomyopathy: case based discussion and management issues. Ir Med J 2010; 103:117-118.
    • (2010) Ir Med J , vol.103 , pp. 117-118
    • Hanley, A.1    Corrigan, R.2    Mohammad, S.3    Macmahon, B.4
  • 134
    • 84865232176 scopus 로고    scopus 로고
    • Management and therapy for cardiomyopathy in Friedreich's ataxia
    • doi: 10.1586/erc.12.57
    • Lynch DR, Regner SR, Schadt KA, et al. Management and therapy for cardiomyopathy in Friedreich's ataxia. Expert Rev Cardiovasc Ther 2012; 10:767-777; doi: 10.1586/erc.12.57.
    • (2012) Expert Rev Cardiovasc Ther , vol.10 , pp. 767-777
    • Lynch, D.R.1    Regner, S.R.2    Schadt, K.A.3
  • 135
    • 79952451186 scopus 로고    scopus 로고
    • Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)
    • e1
    • Lagedrost SJ, Sutton MS, Cohen MS, et al. Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J 2011; 161:639-645; e1.
    • (2011) Am Heart J , vol.161 , pp. 639-645
    • Lagedrost, S.J.1    Sutton, M.S.2    Cohen, M.S.3
  • 136
    • 33748778745 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
    • Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2006; 2:551-558.
    • (2006) Nat Chem Biol , vol.2 , pp. 551-558
    • Herman, D.1    Jenssen, K.2    Burnett, R.3
  • 137
    • 77952530338 scopus 로고    scopus 로고
    • Mitochondrial disorders overview
    • Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Seattle (WA): University of Washington, Seattle; 1993-2000 updated 16 September 2010
    • Chinnery PF. Mitochondrial disorders overview. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Source GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2000 updated 16 September 2010].
    • Source GeneReviews [Internet]
    • Chinnery, P.F.1
  • 138
    • 0037304994 scopus 로고    scopus 로고
    • Cardiac involvement in muscular dystrophy and myotonic dystrophy: Report on 107th ENMC International Workshop
    • Bushby KMD, Muntoni F, Bourke JP. Cardiac involvement in muscular dystrophy and myotonic dystrophy: Report on 107th ENMC International Workshop. Neuromusc Disord 2003; 13:166-172.
    • (2003) Neuromusc Disord , vol.13 , pp. 166-172
    • Bushby, K.M.D.1    Muntoni, F.2    Bourke, J.P.3
  • 139
    • 33846946114 scopus 로고    scopus 로고
    • Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
    • Cohn RD, van Erp C, Habashi JP, et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007; 13:204-210.
    • (2007) Nat Med , vol.13 , pp. 204-210
    • Cohn, R.D.1    Van Erp, C.2    Habashi, J.P.3
  • 140
    • 80051690306 scopus 로고    scopus 로고
    • Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An openlabel, phase 2, dose-escalation study
    • Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an openlabel, phase 2, dose-escalation study. Lancet 2011; 378:595-605.
    • (2011) Lancet , vol.378 , pp. 595-605
    • Cirak, S.1    Arechavala-Gomeza, V.2    Guglieri, M.3
  • 142
    • 33646478253 scopus 로고    scopus 로고
    • Long-term benefi ts of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade
    • Biggar WD, Harris VA, Eliasoph L, Alman B. Long-term benefi ts of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul Disord 2006; 16:249-255.
    • (2006) Neuromuscul Disord , vol.16 , pp. 249-255
    • Biggar, W.D.1    Harris, V.A.2    Eliasoph, L.3    Alman, B.4
  • 143
    • 0036796396 scopus 로고    scopus 로고
    • Experimental and therapeutic approaches to muscular dystrophies
    • Skuk D, Vilquin JT, Tremblay JP. Experimental and therapeutic approaches to muscular dystrophies. Curr Opin Neurol 2002; 15:563-569.
    • (2002) Curr Opin Neurol , vol.15 , pp. 563-569
    • Skuk, D.1    Vilquin, J.T.2    Tremblay, J.P.3
  • 144
    • 81255158697 scopus 로고    scopus 로고
    • Cell therapy for muscular dystrophies: Advances and challenges
    • Vilquin JT, Catelain C, Vauchez K. Cell therapy for muscular dystrophies: advances and challenges. Curr Opin Organ Transplant 2011; 16:640-649.
    • (2011) Curr Opin Organ Transplant , vol.16 , pp. 640-649
    • Vilquin, J.T.1    Catelain, C.2    Vauchez, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.