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Heart Rhythm
Volume 6, Issue 11
, Pages 1574-1583
, November 2009
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
References
- The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?. J Struct Biol. 2004;148:137–152
- Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998;19:402–403
- Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med. 2000;342:770–780
- Structural and functional analysis of a new desmin variant causing desmin-related myopathy. Hum Mutat. 2001;18:388–396
- . Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. Ann Neurol. 2001;49:532–536
- Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve. 2003;27:669–675
- Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord. 2003;13:252–258
- Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet. 2004;114:306–313
- Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci. 2004;219:125–137
- Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail. 2006;8:477–483
- Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol. 2008;131:146–147
- Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. Eur J Med Genet. 2007;50:355–366
- Recommendations for a standardized report for adult transthoracic echocardiography: a report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report. J Am Soc Echocardiogr. 2002;15:275–290
- Guidelines for the study of familial dilated cardiomyopathies (Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy). Eur Heart J. 1999;20:93–102
- Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology). Br Heart J. 1994;71:215–218
- Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. Nucleic Acids Res. 1998;26:5432–5440
- Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis. Nucleic Acids Res. 1999;27:e29
- High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007;154:1130–1139
- Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol. 2007;25:2027–2034
- Effects of diminished expression of connexin43 on gap junction number and size in ventricular myocardium. Am J Physiol Heart Circ Physiol. 2000;278:H1662–H1670
- Case of the month by the EHRA Education committee: exercise-related arrhythmias. Europace. 2008;10:235–237
- Feasibility of pacemaker therapy after dynamic cardiomyoplasty. Pacing Clin Electrophysiol. 1999;22:1543–1546
- Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. Neuropathol Appl Neurobiol. 2008;34:76–87
- . Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain. 2004;127:439–451
- Prevalence of desmin mutations in dilated cardiomyopathy. Circulation. 2007;115:1244–1251
- Assembly of amino-terminally deleted desmin in vimentin-free cells. J Cell Biol. 1990;111:1971–1985
- New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies. J Cell Sci. 2006;119:4974–4985
- Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. Neuromuscul Disord. 2008;18:178–182
- Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum Pathol. 1995;26:1032–1037
- A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A. 1998;95:11312–11317
- Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet. 2000;37:851–857
- . Identification of a complex between alpha-actinin and the intermediate filament subunit skeletin in bovine heart Purkinje fibres. Eur J Cell Biol. 1982;28:139–144
- A comparative analysis of intermediate filament proteins in bovine heart Purkinje fibres and gastric smooth muscle. Eur J Cell Biol. 1987;44:68–78
- Null mutation in the desmin gene gives rise to a cardiomyopathy. J Mol Cell Cardiol. 1997;29:2107–2124
- The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. J Mol Cell Cardiol. 1999;31:2063–2076
- Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol. 2000;150:1283–1298
- Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy. Cardiovasc Res. 2005;67:539–547
- Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol. 2004;13:26–32
- Mouse model of desmin-related cardiomyopathy. Circulation. 2001;103:2402–2407
- A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2009;360:1075–1084
- Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm. 2004;1:3–11
- . In: Thiene G, Pessina AC editor. Dependence of electrical coupling on mechanical coupling in cardiac myocytes (Advances in Cardiovascular Medicine). Padua, Italy: Università degli Studi di Padova; 2003;p. 15–28
- Protein kinase C phosphorylation of desmin at four serine residues within the non-alpha-helical head domain. J Biol Chem. 1989;264:5674–5678
- Protein kinase C-mediated desmin phosphorylation is related to myofibril disarray in cardiomyopathic hamster heart. Exp Biol Med (Maywood). 2002;227:1039–1046
- Influence of deletions and mutations in the head domain of desmin upon assembly competence and network formation. Eur J Cell Biol. 2008;87:452
PII: S1547-5271(09)00822-4
doi: 10.1016/j.hrthm.2009.07.041
© 2009 Heart Rhythm Society. All rights reserved.
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Heart Rhythm
Volume 6, Issue 11
, Pages 1574-1583
, November 2009
