title: Congenital myasthenic syndromes: gene mutation.
mesh_terms: D000110:Acetylcholinesterase / Q000235:genetics*; D003094:Collagen; D006801:Humans; D009124:Muscle Proteins; D009154:Mutation; D009157:Myasthenia Gravis / Q000151:congenital / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000235:genetics*; D013577:Syndrome
chemical_list: D009124:Muscle Proteins; D011950:Receptors, Cholinergic; D003094:Collagen; D000110:Acetylcholinesterase; C114027:COLQ protein, human