A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family

Canadian Journal of Cardiology

Volumn 23, Issue 10, 2007, Pages 788-790

  Bashyam, Murali D ^a   Savithri, Gorinabele R ^a   Gopikrishna, Munimanda ^a   Narasimhan, Calambur ^b  

^a CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

^b CARE HOSPITAL   (India)

Author keywords

Angiotensin; Cardiomyopathy; Hypertrophy

Indexed keywords

ARGININE; HISTIDINE; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; MYOSIN HEAVY CHAIN BETA 7; TROPONIN T; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL HEART PACEMAKER; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENDER; GENE DOSAGE; GENE MUTATION; GENETIC DISORDER; GENETIC RISK; HUMAN; INDIAN; MALE; PHENOTYPIC VARIATION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOMATOLOGY;

EID: 34648825230     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0828-282X(07)70828-0     Document Type: Article

References (4)

1. Bashyam MD, Savithri GR, Kumar MS, Narasimhan C, Nallari P. Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet 2003;48:55-64.
2. Nishi H, Kimum A, Harada H, et al. A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 1995;91:2911-5.
3. Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE. Homozygous mutation in cardiac troponin T: Implications for hypertrophic cardiomyopathy. Circulation 2000;102:1950-5.
4. Cuda G, Fananapazir L, Epstein ND, Sellers JR. The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. J Muscle Res Cell Motil 1997;18:275-83.