Myopathy, Epilepsy, and Progressive Cerebral Atrophy (MEPCA)

Myopathy, Epilepsy, and Progressive Cerebral Atrophy, also known as mepca, is related to congenital hemidysplasia with ichthyosiform erythroderma and limb defects and epilepsy. An important gene associated with Myopathy, Epilepsy, and Progressive Cerebral Atrophy is ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit). Affiliated tissues include skeletal muscle and brain, and related phenotypes are decreased fetal movement and severe muscular hypotonia