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Article

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

Clinical genetics - 1 Oct 2003

Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V

Abstract excerpt

Defects in nine sarcomeric protein genes are known to cause hypertrophic cardiomyopathy (HCM). Mutation types and frequencies in large cohorts of consecutive and unrelated patients have not yet been determined. We, therefore, screened HCM patients for mutations in six sarcomeric genes: myosin-binding protein C3 (MYBPC3), MYH7, cardiac troponin T (TNNT2), alpha-tropomyosin (TPM1), cardiac troponin I (TNNI3), and...

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Source

Identifiers

PMID: 12974739
DOI: 10.1034/j.1399-0004.2003.00151.x

Genes

MYBPC3
MYH7
TNNC1
TNNI3
TNNT2
TPM1

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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