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Article

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

FEBS letters - 17 Sept 2013

Mitsuhashi Satomi, Mitsuhashi Hiroaki, Alexander Matthew S, Sugimoto Hiroyuki, Kang Peter B

Abstract excerpt

Recessive mutations in MEGF10 are known to cause a congenital myopathy in humans. Two mutations in the extracellular EGF-like domains of MEGF10, C326R and C774R, were associated with decreased tyrosine phosphorylation of MEGF10 in vitro. Y1030 was identified to be the major tyrosine phosphorylation site in MEGF10 and is phosphorylated at least in part by c-Src. Overexpression of wild-type MEGF10 enhanced C2C12...

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Identifiers

PMID: 23954233
DOI: 10.1016/j.febslet.2013.08.002
PMCID: PMC3791867

Genes

MEGF10
EGF

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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