Congenital Myopathy 10a, Severe Variant (CMYP10A)

Congenital Myopathy 10a, Severe Variant, also known as emardd, is related to congenital myopathy 10b, mild variant and congenital myopathy, and has symptoms including torticollis and facial paresis. An important gene associated with Congenital Myopathy 10a, Severe Variant is MEGF10 (Multiple EGF Like Domains 10). Affiliated tissues include skeletal muscle and lung, and related phenotypes are dysphagia and hypotonia