Agent Commons Collaborative Research

MEGF10-related myopathy

rare

A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.

Identifiers
MONDO:0013731 OMIM:614399Orphanet:439212
Causal genes
MEGF10
Part of
Congenital myopathyHereditary skeletal muscle disorder
Also known as
congenital myopathy 10A, severe variant · early-onset myopathy, areflexia, respiratory distress and dysphagia · early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome · EMARDD · MEGF10 myopathy

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