Many roads lead to a broken heart: The genetics of dilated cardiomyopathy

American Journal of Human Genetics

Volumn 69, Issue 2, 2001, Pages 249-260

  Schönberger, Jost ^a   Seidman, Christine E ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONGESTIVE CARDIOMYOPATHY; GENE MUTATION; GENETIC HETEROGENEITY; HEART DILATATION; HUMAN; IDIOPATHIC DISEASE; MEDICAL GENETICS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 0034917942     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321978     Document Type: Review

References (74)

1. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23
2. MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure
3. Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy
4. Nitric oxide inhibits dystrophin proteolysis by coxsackieviral protease 2A through S-nitrosylation: A protective mechanism against enteroviral cardiomyopathy
5. Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy
6. Embryonic heart and skin defects in mice lacking plakoglobin
7. A novel X-linked gene, G4.5, is responsible for Barth syndrome
8. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
9. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
10. Gene mapping an autosomal dominant familial dilated cardiomyopathy to chromosome 10q21-23
11. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
12. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
13. Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex
14. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21
15. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
16. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32
17. Dilated and failing cardiomyopathy in bradykinin B(2) receptor knockout mice
18. Familial cardiomegaly
19. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
20. Long-term outcome of patients with biopsy-proved myocarditis: Comparison with idiopathic dilated cardiomyopathy
21. Frequency and phenotypes of familial dilated cardiomyopathy
22. Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22
23. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
24. Neuromuscular disorders: Gene location
25. Molecular and cellular mechanisms of cardiac arrhythmias
26. Familial dilated cardiomyopathy in the United Kingdom
27. Linkage of familial dilated cardiomyopathy to chromosome 9
28. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
29. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14
30. Desmin mutation responsible for idiopathic dilated cardiomyopathy
31. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
32. Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle
33. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
34. Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity: Heart Muscle Disease Study Group
35. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
36. Dystrophin analysis in idiopathic dilated cardiomyopathy
37. A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
38. Genetics of cardiovascular disease
39. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin
40. Chronic phospholamban-sarcoplasmic reticulum calcium ATPase interaction is the critical calcium cycling defect in dilated cardiomyopathy
41. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
42. Brief report: Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
43. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
44. Barth syndrome may be due to an acyltransferase deficiency
45. Identification of the Syrian hamster cardiomyopathy gene
46. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
47. Mapping a cardiomyopathy locus to chromosome 3p22-25
48. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
49. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
50. Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy
51. Mutations in the cardiac ryanodine receptor gene (hryr2) underlie catecholaminergic polymorphic ventricular tachycardia
52. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24
53. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
54. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm
55. Three-dimensional structure of myosin subfragment-1; A molecular motor
56. Mitochondrial fatty acid oxidation disorders
57. Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart
58. Mitochondrial DNA deletions in cardiomyopathies
59. Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-24
60. The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
61. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14
62. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
63. Familial dilated cardiomyopathy locus maps to chromosome 2q31
64. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
65. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
66. A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16
67. Epidemiology of desmin and cardiac actin gene mutations in a European population of dilated cardiomyopathy
68. Pathology and pathogenesis of arrhythmogenic right ventricular cardiomyopathy
69. Right ventricular cardiomyopathy and sudden death in young people
70. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
71. X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
72. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
73. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
74. Lamins and disease: Insights into nuclear infrastructure