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Article

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.

Neuromuscular disorders : NMD - 1 Sept 2016

Takayama Kazuko, Mitsuhashi Satomi, Shin Je-Young, Tanaka Rieko, Fujii Tatsuya, Tsuburaya Rie, Mukaida Souichi, Noguchi Satoru, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

Mutations in the multiple epidermal growth factor-like domains 10 (MEGF10: NM_032446.2) gene are known to cause early-onset myopathy characterized by areflexia, respiratory distress, and dysphagia (EMARDD: OMIM 614399), and a milder phenotype of minicore myopathy. To date, there have been reports of six families with EMARDD and one with a milder disorder. Cysteine mutations in the extracellular EGF-like domain...

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Identifiers

PMID: 27460346
DOI: 10.1016/j.nmd.2016.06.005

Genes

MEGF10
EGF

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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