A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.

doi:10.1016/j.jjcc.2010.02.004

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Article

A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.

Journal of cardiology - 1 Jul 2010

Hirota Takayoshi, Kubo Toru, Kitaoka Hiroaki, Hamada Tomoyuki, Baba Yuichi, Hayato Kayo, Okawa Makoto, Yamasaki Naohito, Matsumura Yoshihisa, Yabe Toshikazu, Doi Yoshinori L

Abstract excerpt

BACKGROUND: Mutations in the cardiac myosin-binding protein C gene (MYBPC3) have been reported to be associated with delayed expression of hypertrophic cardiomyopathy (HCM) and a relatively good prognosis. PURPOSE: The aim of this study was to evaluate clinical manifestations in patients with familial HCM caused by a novel nonsense mutation, S297X, in MYBPC3. METHODS: We analyzed the sarcomere protein genes in 93...

Topics

Adult
Aged
Aged, 80 and over
Atrial Fibrillation
Cardiomyopathy, Hypertrophic
Carrier Proteins
Child
Codon, Nonsense
Echocardiography
Female
Heart Failure
Humans
Hypertrophy, Left Ventricular
Male

Source

Open in PubMed

Identifiers

PMID: 20350521
DOI: 10.1016/j.jjcc.2010.02.004

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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