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Article

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.

BMC neurology - 15 Nov 2022

Hedberg-Oldfors Carola, Elíasdóttir Ólöf, Geijer Mats, Lindberg Christopher, Oldfors Anders

Abstract excerpt

BACKGROUND: Myosin heavy chain (MyHC) isoforms define the three major muscle fiber types in human extremity muscles. Slow beta/cardiac MyHC (MYH7) is expressed in type 1 muscle fibers. MyHC IIa (MYH2) and MyHC IIx (MYH1) are expressed in type 2A and 2B fibers, respectively. Whereas recessive MyHC IIa myopathy has been described in many cases, myopathy caused by dominant MYH2 variants is rare and has been...

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Identifiers

PMID: 36380287
DOI: 10.1186/s12883-022-02935-4
PMCID: PMC9664609

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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