preferred_name: MEGF10-related myopathy
preferred_name_lc: megf10-related myopathy
label: 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.
label_lc: 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.