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Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.

Muscle & nerve - 1 Feb 2017

Hernández-Laín Aurelio, Esteban-Pérez Jesús, Montenegro Diana Cantero, Domínguez-González Cristina

Abstract excerpt

No abstract is available from the source.

Topics

Homozygote
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Muscle, Skeletal
Muscular Diseases
Mutation
Myosin Type II
Ophthalmoplegia

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 27490141
DOI: 10.1002/mus.25365

Genes

MYH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.PMID 27490141Read ↗

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

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.Semantic proximity Read ↗

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.Semantic proximity Read ↗

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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.Semantic proximity Read ↗

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Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.Semantic proximity Read ↗

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.Semantic proximity Read ↗

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