Article
Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q.
American journal of medical genetics - 15 Dec 1999
Matsuo H, Kamakura K, Matsushita S, Ohmori T, Okano M, Tadano Y, Tsuji S, Higuchi S
Abstract excerpt
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 yet been identified. PDC is most likely a kind of channelopathy, as suggested by the fact that other paroxysmal...
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