Article
Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene.
Journal of the American College of Cardiology - 1 Mar 1997
Coviello D A, Maron B J, Spirito P, Watkins H, Vosberg H P, Thierfelder L, Schoen F J, Seidman J G, Seidman C E
Abstract excerpt
OBJECTIVES: We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families. BACKGROUND: Correlation of genotype and phenotype has provided important information in FHC caused by beta-cardiac myosin and cardiac troponin T mutations. Comparable analyses of hypertrophic...
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