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Article

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Journal of medical genetics - 1 Aug 2010

Tajsharghi Homa, Leren Trond P, Abdul-Hussein Saba, Tulinius Mar, Brunvand Leif, Dahl Hilde M, Oldfors Anders

Abstract excerpt

BACKGROUND: Myosin binding protein C (MyBPC) is essential for the structure of the sarcomeres in striated muscle. There is one cardiac specific isoform and two skeletal muscle specific isoforms. Mutations in MYBPC3 encoding the cardiac isoform cause cardiomyopathy. METHODS AND RESULTS: We have identified an infant with fatal cardiomyopathy due to a homozygous mutation, p.R943X, in MYBPC3. The patient also had an...

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Source

Identifiers

PMID: 19858127
DOI: 10.1136/jmg.2009.072710

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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