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Article

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

Cell - 7 Sept 1990

Geisterfer-Lowrance A A, Kass S, Tanigawa G, Vosberg H P, McKenna W, Seidman C E, Seidman J G

Abstract excerpt

A point mutation in exon 13 of the beta cardiac myosin heavy chain (MHC) gene is present in all individuals affected with familial hypertrophic cardiomyopathy (FHC) from a large kindred. This missense mutation converts a highly conserved arginine residue (Arg-403) to a glutamine. Affected individuals from an unrelated family lack this missense mutation, but instead have an alpha/beta cardiac MHC hybrid gene....

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PMID: 1975517
DOI: 10.1016/0092-8674(90)90274-i

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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