MEGF10-related myopathy
MEGF10-related myopathy
Definition
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.
Also known as congenital myopathy 10A, severe variant, MEGF10 myopathy, MEGF10-related myopathy — per MONDO