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Article

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

American journal of human genetics - 1 Nov 1999

Moolman-Smook J C, De Lange W J, Bruwer E C, Brink P A, Corfield V A

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is an autosomal dominantly inherited disease of the cardiac sarcomere, caused by numerous mutations in genes encoding protein components of this structure. Mutation carriers are at risk of sudden cardiac death, mostly as adolescents or young adults. The reproductive disadvantage incurred may explain both the global occurrence of diverse independent HCM-associated mutations and...

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Identifiers

PMID: 10521296
DOI: 10.1086/302623
PMCID: PMC1288283

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Source receipt: pubmed, retrieved 7 Sept 2026.

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