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Article

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.

Circulation - 10 Dec 2002

Van Driest Sara L, Ackerman Michael J, Ommen Steve R, Shakur Rameen, Will Melissa L, Nishimura Rick A, Tajik A Jamil, Gersh Bernard J

Abstract excerpt

BACKGROUND: Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). Routine genetic screening of HCM patients for specific mutations is...

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Source

Identifiers

PMID: 12473556
DOI: 10.1161/01.cir.0000042675.59901.14

Genes

TNNT2
TPM1
MYH7

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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