Myasthenic Syndrome, Congenital, 12 (CMS12)

Myasthenic Syndrome, Congenital, 12, also known as congenital myasthenic syndrome 12, is related to congenital myasthenic syndrome and myasthenia gravis, and has symptoms including muscle cramp, waddling gait and facial paresis. An important gene associated with Myasthenic Syndrome, Congenital, 12 is GFPT1 (Glutamine--Fructose-6-Phosphate Transaminase 1), and among its related pathways/superpathways are Diseases of glycosylation and Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include skeletal muscle, and related phenotypes are ragged-red muscle fibers and motor delay