Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a3, is related to muscular dystrophy-dystroglycanopathy , type a, 3 and muscle-eye-brain disease. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)), and among its related pathways/superpathways are Metabolism of proteins and Diseases of glycosylation. Affiliated tissues include eye and brain, and related phenotype is mortality/aging.