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Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

✍ Scribed by R A Head; C G E L De Goede; R W N Newton; J H Walter; M A McShane; R M Brown; G K Brown

Book ID
111130057
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
76 KB
Volume
46
Category
Article
ISSN
0012-1622

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## 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 (PD