title: Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes.
authors: Kinji
authors: K
authors: Ohno
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*
chemical_list: D017351:N-Acetylglucosaminyltransferases; C047835:dolichyl-phosphate alpha-N-acetylglucosaminyltransferase
keywords: CLINICAL NEUROLOGY; NEUROMUSCULAR