[Polyglycosan body myopathy].

M Jeub, K Kappes-Horn, C Kornblum, D Fischer

Der Nervenarzt（2006）

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摘要

We report two patients with polyglycosan body disease manifesting in adulthood. Clinical, electrophysiological, and histopathological characteristics of their disorders are summarized, and diagnostic classification is discussed.

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关键词

debranching enzyme deficiency,branching enzyme deficiency,acid-maltase deficiency,glycogenosis,polyglycosan body disease

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