Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. | Zendy

Nava Epstein | Zendy; Gabriel Cohn | Zendy; F Cyran | Zendy; Lameh Fananapazir | Zendy

Open Access

Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

Author(s) -

Nava Epstein,

Gabriel Cohn,

F Cyran,

Lameh Fananapazir

Publication year - 1992

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/01.cir.86.2.345

Subject(s) - penetrance , hypertrophic cardiomyopathy , missense mutation , medicine , genetics , mutation , gene mutation , sudden death , point mutation , myh7 , cardiomyopathy , gene , biology , heart failure , phenotype , gene isoform

The disease gene for hypertrophic cardiomyopathy (HCM) has been identified as the beta-myosin heavy chain (beta-MHC) gene in some HCM families. We describe extensive clinical evaluations in two kindreds with two distinct point mutations in the beta-MHC gene.

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