title: [Schwartz-Jampel syndrome(chondrodystrophic myotonia)].
authors.affiliation: Department of Neurology, Juntendo University School of Medicine.
authors.forename: E
authors.initials: E
authors.lastname: Arikawa-Hirasawa
mesh_terms: D000109:Acetylcholine / Q000502:physiology; D000110:Acetylcholinesterase / Q000378:metabolism; D000818:Animals; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003094:Collagen; D003937:Diagnosis, Differential; D019812:Heparan Sulfate Proteoglycans / Q000235:genetics / Q000502:physiology; D006801:Humans; D009124:Muscle Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000145:classification / Q000235:genetics; D011379:Prognosis
chemical_list: D019812:Heparan Sulfate Proteoglycans; D009124:Muscle Proteins; C071927:perlecan; D003094:Collagen; D000110:Acetylcholinesterase; C114027:COLQ protein, human; D000109:Acetylcholine