Myasthenic Syndrome, Congenital, 14 (CMS14)

Myasthenic Syndrome, Congenital, 14, also known as congenital myasthenic syndrome 14, is related to congenital myasthenic syndromes with glycosylation defect and myasthenic syndrome, congenital, 12, and has symptoms including waddling gait An important gene associated with Myasthenic Syndrome, Congenital, 14 is ALG2 (ALG2 Alpha-1,3/1,6-Mannosyltransferase), and among its related pathways/superpathways are Synthesis of substrates in N-glycan biosythesis and Glycosylation and related congenital defects. Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and ragged-red muscle fibers