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Mutation analysis of the sodium/hydrogen exchanger gene (NHE5) in familial paroxysmal kinesigenic dyskinesia

โœ Scribed by S. D. Spacey; B. I. Szczygielski; J. E. McRory; G. M. Wali; N. W. Wood; T. P. Snutch


Publisher
Springer
Year
2002
Tongue
English
Weight
50 KB
Volume
109
Category
Article
ISSN
1435-1463

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Familial paroxysmal dystonic choreoathetosis (PDC) is an autosomal dominant neurological disorder characterized by episodes of involuntary movement precipitated by caffeine, alcohol, or emotional stress. The locus for PDC has recently been mapped to chromosome 2q32-36, but its causative gene has not