메뉴 건너뛰기




Volumn 173, Issue 3, 2014, Pages 532-535

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction

Author keywords

Arrhythmias; Cardiac involvement; Hypertrabeculation; Implantable cardioverter defibrillator; Non compaction

Indexed keywords

ALPRAZOLAM; BISOPROLOL; CITALOPRAM; CREATINE KINASE; ENALAPRIL; MAGNESIUM; PAROXETINE; PROPAFENONE; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

EID: 84899567573     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2014.03.025     Document Type: Article
Times cited : (15)

References (58)
  • 1
    • 84870391271 scopus 로고    scopus 로고
    • Mutations in MYH7 cause multi-minicore disease (MmD) with variable cardiac involvement
    • T. Cullup, P.J. Lamont, and S. Cirak et al. Mutations in MYH7 cause multi-minicore disease (MmD) with variable cardiac involvement Neuromuscul Disord 22 2012 1096 1104
    • (2012) Neuromuscul Disord , vol.22 , pp. 1096-1104
    • Cullup, T.1    Lamont, P.J.2    Cirak, S.3
  • 2
    • 84855180052 scopus 로고    scopus 로고
    • Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy
    • X.L. Feng, X.P. Fan, Z.W. Yang, and F.H. Yang Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy Zhonghua Xin Xue Guan Bing Za Zhi 39 2011 110 113
    • (2011) Zhonghua Xin Xue Guan Bing Za Zhi , vol.39 , pp. 110-113
    • Feng, X.L.1    Fan, X.P.2    Yang, Z.W.3    Yang, F.H.4
  • 3
    • 79951942163 scopus 로고    scopus 로고
    • Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy
    • H. Homayoun, S. Khavandgar, and J.M. Hoover et al. Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy Neuromuscul Disord 21 2011 219 222
    • (2011) Neuromuscul Disord , vol.21 , pp. 219-222
    • Homayoun, H.1    Khavandgar, S.2    Hoover, J.M.3
  • 4
    • 77957956350 scopus 로고    scopus 로고
    • MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
    • N. Muelas, P. Hackman, and H. Luque et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy Neurology 75 2010 732 741
    • (2010) Neurology , vol.75 , pp. 732-741
    • Muelas, N.1    Hackman, P.2    Luque, H.3
  • 5
    • 59149107091 scopus 로고    scopus 로고
    • Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation
    • E. Uro-Coste, M.C. Arné-Bes, and J.F. Pellissier et al. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation Neuromuscul Disord 19 2009 163 166
    • (2009) Neuromuscul Disord , vol.19 , pp. 163-166
    • Uro-Coste, E.1    Arné-Bes, M.C.2    Pellissier, J.F.3
  • 6
    • 42249090222 scopus 로고    scopus 로고
    • Familial and sporadic hypertrophic myopathy: Differences and similarities in a genotyped population. A long follow-up study
    • D. Brito, P. Richard, M. Komajda, and H. Madeira Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study Rev Port Cardiol 27 2008 147 173
    • (2008) Rev Port Cardiol , vol.27 , pp. 147-173
    • Brito, D.1    Richard, P.2    Komajda, M.3    Madeira, H.4
  • 7
    • 41549104624 scopus 로고    scopus 로고
    • A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy
    • S. Karam, M.J. Raboisson, and C. Ducreux et al. A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy Congenit Heart Dis 3 2008 138 143
    • (2008) Congenit Heart Dis , vol.3 , pp. 138-143
    • Karam, S.1    Raboisson, M.J.2    Ducreux, C.3
  • 8
    • 44649118695 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes in left ventricular noncompaction
    • S. Klaassen, S. Probst, and E. Oechslin et al. Mutations in sarcomere protein genes in left ventricular noncompaction Circulation 117 2008 2893 2901
    • (2008) Circulation , vol.117 , pp. 2893-2901
    • Klaassen, S.1    Probst, S.2    Oechslin, E.3
  • 9
    • 80052752591 scopus 로고    scopus 로고
    • Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype
    • S. Probst, E. Oechslin, and P. Schuler et al. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype Circ Cardiovasc Genet 4 2011 367 374
    • (2011) Circ Cardiovasc Genet , vol.4 , pp. 367-374
    • Probst, S.1    Oechslin, E.2    Schuler, P.3
  • 10
    • 84888053567 scopus 로고    scopus 로고
    • A comparison of the risk of QT prolongation among SSRIs
    • K.A. Funk, and J.R. Bostwick A comparison of the risk of QT prolongation among SSRIs Ann Pharmacother 47 2013 1330 1341
    • (2013) Ann Pharmacother , vol.47 , pp. 1330-1341
    • Funk, K.A.1    Bostwick, J.R.2
  • 12
    • 61849089276 scopus 로고    scopus 로고
    • Myopathy, apical hypertrophic cardiomyopathy and left ventricular noncompaction within the same family
    • C. Stöllberger, A. Hamedanchi, and J. Finsterer Myopathy, apical hypertrophic cardiomyopathy and left ventricular noncompaction within the same family Acta Cardiol 64 2009 35 40
    • (2009) Acta Cardiol , vol.64 , pp. 35-40
    • Stöllberger, C.1    Hamedanchi, A.2    Finsterer, J.3
  • 13
    • 84877031203 scopus 로고    scopus 로고
    • Refinement of echocardiographic criteria for left ventricular noncompaction
    • C. Stöllberger, B. Gerecke, J. Finsterer, and R. Engberding Refinement of echocardiographic criteria for left ventricular noncompaction Int J Cardiol 165 2013 463 467
    • (2013) Int J Cardiol , vol.165 , pp. 463-467
    • Stöllberger, C.1    Gerecke, B.2    Finsterer, J.3    Engberding, R.4
  • 14
    • 79960052159 scopus 로고    scopus 로고
    • Neuromuscular and cardiac comorbidity determines survival in 140 patients with left ventricular hypertrabeculation/noncompaction
    • C. Stöllberger, G. Blazek, C. Wegner, M. Winkler-Dworak, and J. Finsterer Neuromuscular and cardiac comorbidity determines survival in 140 patients with left ventricular hypertrabeculation/noncompaction Int J Cardiol 150 2011 71 74
    • (2011) Int J Cardiol , vol.150 , pp. 71-74
    • Stöllberger, C.1    Blazek, G.2    Wegner, C.3    Winkler-Dworak, M.4    Finsterer, J.5
  • 15
    • 33744828270 scopus 로고    scopus 로고
    • Neuromuscular implications in left ventricular hypertrabeculation/ noncompaction
    • J. Finsterer, C. Stöllberger, and G. Blazek Neuromuscular implications in left ventricular hypertrabeculation/noncompaction Int J Cardiol 110 2006 288 300
    • (2006) Int J Cardiol , vol.110 , pp. 288-300
    • Finsterer, J.1    Stöllberger, C.2    Blazek, G.3
  • 16
    • 23644452964 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/ noncompaction as a cardiac manifestation of Duchenne muscular dystrophy under non-invasive positive-pressure ventilation
    • J. Finsterer, E. Gelpi, and C. Stöllberger Left ventricular hypertrabeculation/ noncompaction as a cardiac manifestation of Duchenne muscular dystrophy under non-invasive positive-pressure ventilation Acta Cardiol 60 2005 445 448
    • (2005) Acta Cardiol , vol.60 , pp. 445-448
    • Finsterer, J.1    Gelpi, E.2    Stöllberger, C.3
  • 17
    • 84881121835 scopus 로고    scopus 로고
    • Left ventricular noncompaction in Duchenne muscular dystrophy
    • C.J. Statile, M.D. Taylor, and W. Mazur et al. Left ventricular noncompaction in Duchenne muscular dystrophy J Cardiovasc Magn Reson 15 2013 67
    • (2013) J Cardiovasc Magn Reson , vol.15 , pp. 67
    • Statile, C.J.1    Taylor, M.D.2    Mazur, W.3
  • 18
    • 84885597790 scopus 로고    scopus 로고
    • Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy - Prospective multicenter cohort study
    • K. Kimura, K. Takenaka, and A. Ebihara et al. Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy - prospective multicenter cohort study Int J Cardiol 3 Jan 17 2013 1900 1904
    • (2013) Int J Cardiol , vol.3 , pp. 1900-1904
    • Kimura, K.1    Takenaka, K.2    Ebihara, A.3
  • 19
    • 84876668531 scopus 로고    scopus 로고
    • On the edge of noncompaction: Minimally manifesting Duchenne carrier due to the dystrophin mutation n.2867A>C
    • J. Finsterer, C. Stöllberger, Z. Vlckova, and M. Gencik On the edge of noncompaction: minimally manifesting Duchenne carrier due to the dystrophin mutation n.2867A>C Int J Cardiol 165 2013 e18 e20
    • (2013) Int J Cardiol , vol.165
    • Finsterer, J.1    Stöllberger, C.2    Vlckova, Z.3    Gencik, M.4
  • 20
    • 21744448369 scopus 로고    scopus 로고
    • Noncompaction in myotonic dystrophy type 1 on cardiac MRI
    • J. Finsterer, C. Stölberger, and W. Kopsa Noncompaction in myotonic dystrophy type 1 on cardiac MRI Cardiology 103 2005 167 168
    • (2005) Cardiology , vol.103 , pp. 167-168
    • Finsterer, J.1    Stölberger, C.2    Kopsa, W.3
  • 21
    • 84885298175 scopus 로고    scopus 로고
    • Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1
    • J. Finsterer, C. Stöllberger, A. Hornykewycz, and M. Gencik Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1 Int J Cardiol 168 2013 e38 e39
    • (2013) Int J Cardiol , vol.168
    • Finsterer, J.1    Stöllberger, C.2    Hornykewycz, A.3    Gencik, M.4
  • 22
    • 42649101980 scopus 로고    scopus 로고
    • Left ventricular non-compaction in a patient with myotonic dystrophy type 2
    • K. Wahbi, C. Meune, and G. Bassez et al. Left ventricular non-compaction in a patient with myotonic dystrophy type 2 Neuromuscul Disord 18 2008 331 333
    • (2008) Neuromuscul Disord , vol.18 , pp. 331-333
    • Wahbi, K.1    Meune, C.2    Bassez, G.3
  • 23
    • 3042519038 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations
    • M. Hermida-Prieto, L. Monserrat, and A. Castro-Beiras et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations Am J Cardiol 94 2004 50 54
    • (2004) Am J Cardiol , vol.94 , pp. 50-54
    • Hermida-Prieto, M.1    Monserrat, L.2    Castro-Beiras, A.3
  • 24
    • 2542486394 scopus 로고    scopus 로고
    • Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12
    • A.B. Kenton, X. Sanchez, and K.J. Coveler et al. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12 Mol Genet Metab 82 2004 162 166
    • (2004) Mol Genet Metab , vol.82 , pp. 162-166
    • Kenton, A.B.1    Sanchez, X.2    Coveler, K.J.3
  • 25
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • M. Vatta, B. Mohapatra, and S. Jimenez 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
  • 26
    • 84872047539 scopus 로고    scopus 로고
    • Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction
    • Y. Xi, T. Ai, and E. De Lange et al. Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction Circ Arrhythm Electrophysiol 5 2012 1017 1026
    • (2012) Circ Arrhythm Electrophysiol , vol.5 , pp. 1017-1026
    • Xi, Y.1    Ai, T.2    De Lange, E.3
  • 29
    • 84874926274 scopus 로고    scopus 로고
    • Primary electrical disorder or primary cardiomyopathy? A case with a unique association of noncompaction cardiomyopathy and cathecolaminergic polymorphic ventricular tachycardia caused by ryanodine receptor mutation
    • Z. Szentpáli, T. Szili-Torok, and K. Caliskan Primary electrical disorder or primary cardiomyopathy? A case with a unique association of noncompaction cardiomyopathy and cathecolaminergic polymorphic ventricular tachycardia caused by ryanodine receptor mutation Circulation 127 2013 1165 1166
    • (2013) Circulation , vol.127 , pp. 1165-1166
    • Szentpáli, Z.1    Szili-Torok, T.2    Caliskan, K.3
  • 30
    • 84879123995 scopus 로고    scopus 로고
    • Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
    • T. Esposito, S. Sampaolo, and G. Limongelli et al. Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy Orphanet J Rare Dis 8 2013 Jun 21 91
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 91
    • Esposito, T.1    Sampaolo, S.2    Limongelli, G.3
  • 31
    • 84871271032 scopus 로고    scopus 로고
    • Late profound muscle weakness following heart transplantation due to Danon disease
    • P. Van Der Starre, T. Deuse, C. Pritts, C. Brun, H. Vogel, and P. Oyer Late profound muscle weakness following heart transplantation due to Danon disease Muscle Nerve 47 2013 135 137
    • (2013) Muscle Nerve , vol.47 , pp. 135-137
    • Van Der Starre, P.1    Deuse, T.2    Pritts, C.3    Brun, C.4    Vogel, H.5    Oyer, P.6
  • 32
    • 78651059810 scopus 로고    scopus 로고
    • Glycogen-branching enzyme deficiency leads to abnormal cardiac development: Novel insights into glycogen storage disease IV
    • Y.C. Lee, C.J. Chang, D. Bali, Y.T. Chen, and Y.T. Yan Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV Hum Mol Genet 20 2011 455 465
    • (2011) Hum Mol Genet , vol.20 , pp. 455-465
    • Lee, Y.C.1    Chang, C.J.2    Bali, D.3    Chen, Y.T.4    Yan, Y.T.5
  • 33
    • 4043152735 scopus 로고    scopus 로고
    • Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction
    • J. Finsterer, B. Schoser, and C. Stöllberger Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction Acta Cardiol 59 2004 453 456
    • (2004) Acta Cardiol , vol.59 , pp. 453-456
    • Finsterer, J.1    Schoser, B.2    Stöllberger, C.3
  • 34
    • 0344844423 scopus 로고    scopus 로고
    • Clinical characterization of left ventricular noncompaction in children: A relatively common form of cardiomyopathy
    • R.H. Pignatelli, C.J. McMahon, and W.J. Dreyer 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.H.1    McMahon, C.J.2    Dreyer, W.J.3
  • 35
    • 14244259670 scopus 로고    scopus 로고
    • Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
    • F. Scaglia, J.A. Towbin, and W.J. Craigen 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.A.2    Craigen, W.J.3
  • 36
    • 34250889413 scopus 로고    scopus 로고
    • Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction
    • Z. Davili, S. Johar, C. Hughes, D. Kveselis, and J. Hoo Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction Eur J Pediatr 166 2007 867 870
    • (2007) Eur J Pediatr , vol.166 , pp. 867-870
    • Davili, Z.1    Johar, S.2    Hughes, C.3    Kveselis, D.4    Hoo, J.5
  • 37
    • 79952831857 scopus 로고    scopus 로고
    • Left ventricular non-compaction in children and adolescents: Clinical features, treatment and follow-up
    • Y. Ergul, K. Nisli, and A. Demirel et al. Left ventricular non-compaction in children and adolescents: clinical features, treatment and follow-up Cardiol J 18 2011 176 184
    • (2011) Cardiol J , vol.18 , pp. 176-184
    • Ergul, Y.1    Nisli, K.2    Demirel, A.3
  • 38
    • 84864515189 scopus 로고    scopus 로고
    • Malonyl coenzyme A decarboxylase deficiency: Early dietary restriction and time course of cardiomyopathy
    • C.E. Prada, J.L. Jefferies, and M.A. Grenier et al. Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy Pediatrics 130 2012 e456 e460
    • (2012) Pediatrics , vol.130
    • Prada, C.E.1    Jefferies, J.L.2    Grenier, M.A.3
  • 39
  • 40
    • 82655184886 scopus 로고    scopus 로고
    • Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium
    • A. Takeda, A. Sudo, and M. Yamada et al. Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium Eur J Pediatr 170 2011 1481 1484
    • (2011) Eur J Pediatr , vol.170 , pp. 1481-1484
    • Takeda, A.1    Sudo, A.2    Yamada, M.3
  • 41
    • 84860200035 scopus 로고    scopus 로고
    • Barth syndrome in a female patient
    • L. Cosson, A. Toutain, and G. Simard et al. Barth syndrome in a female patient Mol Genet Metab 106 2012 115 120
    • (2012) Mol Genet Metab , vol.106 , pp. 115-120
    • Cosson, L.1    Toutain, A.2    Simard, G.3
  • 42
    • 84868638909 scopus 로고    scopus 로고
    • Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa
    • T.D. Ryan, S.M. Ware, A.W. Lucky, J.A. Towbin, J.L. Jefferies, and R.B. Hinton Left ventricular noncompaction cardiomyopathy and aortopathy in a patient with recessive dystrophic epidermolysis bullosa Circ Heart Fail 5 2012 e81 e82
    • (2012) Circ Heart Fail , vol.5
    • Ryan, T.D.1    Ware, S.M.2    Lucky, A.W.3    Towbin, J.A.4    Jefferies, J.L.5    Hinton, R.B.6
  • 43
    • 84899496991 scopus 로고    scopus 로고
    • Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease
    • P. Tanpaiboon, J.L. Sloan, and P.F. Callahan et al. Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease JIMD Rep 10 2013 33 38
    • (2013) JIMD Rep , vol.10 , pp. 33-38
    • Tanpaiboon, P.1    Sloan, J.L.2    Callahan, P.F.3
  • 44
    • 70350622068 scopus 로고    scopus 로고
    • High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
    • L.E. Profitlich, B. Kirmse, M.P. Wasserstein, G.A. Diaz, and S. Srivastava High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria Mol Genet Metab 98 2009 344 348
    • (2009) Mol Genet Metab , vol.98 , pp. 344-348
    • Profitlich, L.E.1    Kirmse, B.2    Wasserstein, M.P.3    Diaz, G.A.4    Srivastava, S.5
  • 45
    • 79960188921 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction in hereditary inclusion body myopathy
    • J. Finsterer, C. Stöllberger, and R. Höftberger Left ventricular hypertrabeculation/noncompaction in hereditary inclusion body myopathy Int J Cardiol 150 2011 e67 e69
    • (2011) Int J Cardiol , vol.150
    • Finsterer, J.1    Stöllberger, C.2    Höftberger, R.3
  • 46
    • 79955376509 scopus 로고    scopus 로고
    • Myocardial fibrosis in left ventricular non-compaction: Is late gadolinium enhancement indeed indicative of fibrosis?
    • P. Alter, and H. Rupp Myocardial fibrosis in left ventricular non-compaction: is late gadolinium enhancement indeed indicative of fibrosis? Eur J Heart Fail 13 2011 577 578
    • (2011) Eur J Heart Fail , vol.13 , pp. 577-578
    • Alter, P.1    Rupp, H.2
  • 47
    • 84883819160 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction coincidentally found in sporadic inclusion body myositis
    • J. Finsterer, C. Stöllberger, G.G. Kovacs, and E. Sehnal Left ventricular hypertrabeculation/noncompaction coincidentally found in sporadic inclusion body myositis Int J Cardiol 168 2013 610 612
    • (2013) Int J Cardiol , vol.168 , pp. 610-612
    • Finsterer, J.1    Stöllberger, C.2    Kovacs, G.G.3    Sehnal, E.4
  • 48
    • 33645473866 scopus 로고    scopus 로고
    • Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
    • G. Corrado, N. Checcarelli, M. Santarone, C. Stollberger, and J. Finsterer Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A Cardiology 105 2006 142 145
    • (2006) Cardiology , vol.105 , pp. 142-145
    • Corrado, G.1    Checcarelli, N.2    Santarone, M.3    Stollberger, C.4    Finsterer, J.5
  • 49
    • 84869181967 scopus 로고    scopus 로고
    • Left ventricular noncompaction in patients with β-thalassemia: Uncovering a previously unrecognized abnormality
    • A. Piga, F. Longo, and K.M. Musallam et al. Left ventricular noncompaction in patients with β-thalassemia: uncovering a previously unrecognized abnormality Am J Hematol 87 2012 1079 1083
    • (2012) Am J Hematol , vol.87 , pp. 1079-1083
    • Piga, A.1    Longo, F.2    Musallam, K.M.3
  • 50
    • 84862009401 scopus 로고    scopus 로고
    • Poliomyelitis and left ventricular hypertrabeculation (noncompaction)
    • J. Finsterer, and C. Stöllberger Poliomyelitis and left ventricular hypertrabeculation (noncompaction) Int J Cardiol 158 2012 e15 e16
    • (2012) Int J Cardiol , vol.158
    • Finsterer, J.1    Stöllberger, C.2
  • 51
    • 80054763496 scopus 로고    scopus 로고
    • Left ventricular noncompaction in a patient with Fabry disease: Overdiagnosis, morphological manifestation of Fabry disease or two unrelated rare conditions in the same patient?
    • O. Azevedo, P. Gaspar, C. Sá Miranda, D. Cunha, R. Medeiros, and A. Lourenço Left ventricular noncompaction in a patient with Fabry disease: overdiagnosis, morphological manifestation of Fabry disease or two unrelated rare conditions in the same patient? Cardiology 119 2011 155 159
    • (2011) Cardiology , vol.119 , pp. 155-159
    • Azevedo, O.1    Gaspar, P.2    Sá Miranda, C.3    Cunha, D.4    Medeiros, R.5    Lourenço, A.6
  • 52
    • 84875981663 scopus 로고    scopus 로고
    • Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity
    • H. Chen, W. Zhang, and X. Sun et al. Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity Development 140 2013 1946 1957
    • (2013) Development , vol.140 , pp. 1946-1957
    • Chen, H.1    Zhang, W.2    Sun, X.3
  • 53
    • 0032576689 scopus 로고    scopus 로고
    • Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12
    • W. Shou, B. Aghdasi, and D.L. Armstrong et al. Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12 Nature 391 1998 489 492
    • (1998) Nature , vol.391 , pp. 489-492
    • Shou, W.1    Aghdasi, B.2    Armstrong, D.L.3
  • 54
    • 84885587721 scopus 로고    scopus 로고
    • Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: Insights from cardiac magnetic resonance in clinical screening: Camuglia MYBPC3 gene mutation and MRI
    • A.C. Camuglia, J.F. Younger, J. McGaughran, A. Lo, and J.J. Atherton Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: insights from cardiac magnetic resonance in clinical screening: Camuglia MYBPC3 gene mutation and MRI Int J Cardiol 168 2013 2950 2952
    • (2013) Int J Cardiol , vol.168 , pp. 2950-2952
    • Camuglia, A.C.1    Younger, J.F.2    McGaughran, J.3    Lo, A.4    Atherton, J.J.5
  • 55
    • 77949887523 scopus 로고    scopus 로고
    • Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation
    • L.M. Dellefave, P. Pytel, and S. Mewborn et al. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation Circ Cardiovasc Genet 2 2009 442 449
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 442-449
    • Dellefave, L.M.1    Pytel, P.2    Mewborn, S.3
  • 56
    • 67349171842 scopus 로고    scopus 로고
    • Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction
    • J. Finsterer Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction Pediatr Cardiol 30 2009 659 681
    • (2009) Pediatr Cardiol , vol.30 , pp. 659-681
    • Finsterer, J.1
  • 57
    • 84867083999 scopus 로고    scopus 로고
    • New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies
    • T. Ojala, P. Polinati, and T. Manninen et al. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies Pediatr Res 72 2012 432 437
    • (2012) Pediatr Res , vol.72 , pp. 432-437
    • Ojala, T.1    Polinati, P.2    Manninen, T.3
  • 58
    • 34250783255 scopus 로고    scopus 로고
    • Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy
    • J. Finsterer, C. Stöllberger, C. Steger, and W. Cozzarini Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy J Electrocardiol 40 2007 352 354
    • (2007) J Electrocardiol , vol.40 , pp. 352-354
    • Finsterer, J.1    Stöllberger, C.2    Steger, C.3    Cozzarini, W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.