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Article

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).

European journal of human genetics : EJHG - 1 May 2005

Tajsharghi Homa, Darin Niklas, Rekabdar Elham, Kyllerman Mårten, Wahlström Jan, Martinsson Tommy, Oldfors Anders

Abstract excerpt

We recently described a new autosomal dominant myopathy associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2). In this study, we performed mutation analysis of MYH2 in eight Swedish patients with familial myopathy of unknown cause. In two of the eight index cases, we identified novel heterozygous missense mutations in MYH2, one in each case: V970I and L1061V. The mutations were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15741996
DOI: 10.1038/sj.ejhg.5201375

Genes

MYH2

Variants

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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