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Article

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Neuromuscular disorders : NMD - 1 Jan 2018

Harris Elizabeth, Marini-Bettolo Chiara, Töpf Ana, Barresi Rita, Polvikoski Tuomo, Bailey Geraldine, Charlton Richard, Tellez James, MacArthur Daniel, Guglieri Michela, Lochmüller Hanns, Bushby Kate, Straub Volker

Abstract excerpt

Recessive mutations in MEGF10 (multiple epidermal growth factor 10) have been reported in a severe early onset disorder named Early Myopathy, Areflexia, Respiratory Distress and Dysphagia, and a milder form with cores in the muscle biopsy; and a possible genotype-phenotype correlation determining the clinical presentation has been suggested. We undertook exome sequencing in a 66 year old male with a 20 year...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29128256
DOI: 10.1016/j.nmd.2017.09.017

Genes

MEGF10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.PMID 29128256Read ↗

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