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- W2185173805 abstract "Hypertrophic cardiomyopathy (HCM) is genetically and phenotypically a heterogeneous disease. Genes identified include the β myosin heavy chain gene (βMHC) on chromosome 14q1, the troponin T gene on chromosome 1q, and the α tropomyosin gene on chromosome 15q. In addition, a fourth locus is present on chromosome 11q11, but the gene remains to be identified. More than 35 missense mutations in the βMHC, 3 mutations in troponin T, and 2 mutations in α tropomyosin gene in HCM patients have been identified. Functional studies have shown that the mutant βMHC protein has impaired actomyosin interaction and that expression of the mutant myosin disrupts the assembly of sarcomere in feline cardiocytes. Genotype-phenotype correlations of βMHC mutations have shown that mutations such as Arg403Gln, Arg453Cys, and Arg719Trp are associated with a high incidence of sudden cardiac death and a significantly decreased life expectancy, whereas mutations Gly256Glu and Leu908Val have a near-normal life span. Preclinical genetic diagnosis should help in genetic counseling and therapeutic stratification." @default.
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- W2185173805 date "1995-01-01" @default.
- W2185173805 modified "2023-09-28" @default.
- W2185173805 title "MOLECULAR GENETICS OF HYPERTROPHICATHY" @default.
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