A previously undescribed de novo insertion-deletion mutation in the β myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy

Heart

Volumn 76, Issue 5, 1996, Pages 451-452

  Cuda, G ^a   Perrotti, N ^a   Perticone, F ^a   Mattioli, P L ^a  

^a UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

Hypertrophic cardiomyopathy; Mutation; Myosin

Indexed keywords

MYOSIN HEAVY CHAIN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; FAMILIAL DISEASE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PRIORITY JOURNAL;

EID: 0029842019     PISSN: 13556037     EISSN: None     Source Type: Journal    
DOI: 10.1136/hrt.76.5.451     Document Type: Article

References (9)

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2. Thierfelder L, Watkins H, MacRae C, Lamas R, Williams M, McKenna W, et al. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12.
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9. Nishi H, Kimura A, Harada H, Adachi K, Koga Y, Sasazuki T, et al. Possible gene dose effect of a mutant cardiac β-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 1994;200:549-56.