Publication | Open Access

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic)

Mendelian DisorderConnective Tissue DiseaseGenetic DisorderMedicineGeneticsPathologyDisease Gene IdentificationCongenital Myasthenic SyndromeNeuromuscular PathologyEnd-plate Acetylcholinesterase DeficiencyClinical GeneticsType Ic