MEGF10-related myopathy

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: MEGF10 myopathy, MEGF10-related myopathy, congenital myopathy 10A, severe variant, EMARDD, early-onset myopathy, areflexia, respiratory distress and dysphagia, early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome, myopathy, areflexia, respiratory distress, and dysphagia, early-onset, myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant

4 clinical trials for this condition and its sub-types, 0 tagged with MEGF10-related myopathy itself.