Myasthenic Syndrome, Congenital, 15 (CMS15)

Myasthenic Syndrome, Congenital, 15, also known as congenital myasthenic syndrome 15, is related to myopathy, epilepsy, and progressive cerebral atrophy and congenital myasthenic syndromes with glycosylation defect. An important gene associated with Myasthenic Syndrome, Congenital, 15 is ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and Diseases of glycosylation. Related phenotypes are fatigable weakness and emg: decremental response of compound muscle action potential to repetitive nerve stimulation