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Article

A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.

Journal of neurology - 1 Jul 2016

Willis Tracey, Hedberg-Oldfors Carola, Alhaswani Zoya, Kulshrestha Richa, Sewry Caroline, Oldfors Anders

Abstract excerpt

Myosin heavy chain (MyHC) is a major structural component of the striated muscle contractile apparatus. In adult human limb skeletal muscle, there are three major MyHC isoforms, slow/beta cardiac MyHC, MyHC IIa and MHC IIx, which are important for the functional characteristics of different muscle fiber types. Hereditary myosin myopathies have emerged as an important group of diseases with variable clinical and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Fibers, Skeletal

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Source

Identifiers

PMID: 27177998
DOI: 10.1007/s00415-016-8154-8

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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A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.PMID 27177998Read ↗

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