title: Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis.
abstract: Familial hypokalemic periodic paralysis is an autosomal dominant disorder. Recently, three predominant mutations were found in the muscle dihydropyridine-sensitive calcium channel alpha 1-subunit gene. We present a Japanese family that displays one of these, the Arg1239His mutation. All the affected individuals of this family displayed this mutation. Two cases had a history of recurrent episodes of muscle weakness and difficulty in running before their first paralytic attack. It is suggested that there are no racial differences with this mutation, and that mild muscle weakness occurs not only after but also preceding the first attack.
authors.affiliation: Division of Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan. mkusumi@grape.med.tottori-u.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Kusumi
authors.forename: H
authors.initials: H
authors.lastname: Kumada
authors.forename: Y
authors.initials: Y
authors.lastname: Adachi
authors.forename: K
authors.initials: K
authors.lastname: Nakashima
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D002648:Child; D003062:Codon; D005260:Female; D006639:Histidine / Q000235:genetics*; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000235:genetics*; D008297:Male; D018908:Muscle Weakness / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D003062:Codon; D006639:Histidine; D001120:Arginine