Homozygotes for a R869G mutation in the β-myosin heavy chain gene have a severe form of Familial Hypertrophic Cardiomyopathy

Journal of Molecular and Cellular Cardiology

Volumn 32, Issue 8, 2000, Pages 1575-1583

  Richard, Pascale ^a   Charron, Philippe ^a   Leclercq, Christophe ^b   Ledeuil, Céline ^a   Carrier, Lucie ^a   Dubourg, Olivier ^a,c   Desnos, Michel ^a,d   Bouhour, Jean Brieuc ^e   Schwartz, Ketty ^a   Daubert, Jean Claude ^b   Komajda, Michel ^a   Hainque, Bernard ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c HÔPITAL AMBROISE PARÉ   (France)

^d Hopital Boucicaut   (France)

^e Service de Cardiologie   (France)

Author keywords

Familial hypertrophic cardiomyopathy; Genetics; Homozygosity; Myosin heavy chain gene

Indexed keywords

MYOSIN HEAVY CHAIN;

ADULT; AGED; ARTICLE; CASE REPORT; ECHOCARDIOGRAPHY; FEMALE; GENE DOSAGE; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HEART ATRIUM FIBRILLATION; HEART VENTRICLE HYPERTROPHY; HOMOZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PRIORITY JOURNAL;

EID: 0033851630     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1006/jmcc.2000.1193     Document Type: Article

References (32)

1. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA study
2. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies
3. Hypertrophic cardiomyopathy: Clinical spectrum and treatment
4. The management of hypertrophic cardiomyopathy
5. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children
6. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population
7. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1
8. A molecular basis for familial hypertrophic cardiomyopathy: A b cardiac myosin heavy chain gene missense mutation
9. Mutation in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
10. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11
11. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
12. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
13. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
14. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
15. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
16. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
17. Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
18. Familial hypertrophic cardiomyopathy: From mutations to functional defects
19. Complete sequence and organization of the human cardiac b-myosin heavy chain gene
20. Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH7)
21. Permanent left atrial pacing with a specifically designed coronary sinus lead
22. Implications of left ventricular remodeling in hypertrophic cardiomyopathy
23. Absence of progression of left ventricular hypertrophy in adult patients with hypertrophic cardiomyopathy
24. A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy
25. A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes
26. Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
27. A mouse model of familial hypertrophic cardiomyopathy
28. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene
29. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice
30. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
31. Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C
32. First description of germline mosaicism in familial hypertrophic cardiomyopathy