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Late-onset presentation of pyruvate dehydrogenase deficiency

✍ Scribed by George Mellick; Lee Price; Richard Boyle

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
84 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Two brothers presented in their mid‐forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay. Β© 2004 Movement Disorder Society

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