Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia

Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia

<p><strong>Background</strong>: Hereditary coproporphyria (HCPO) is a low‐penetrance, autosomal dominant, acute hepatic porphyria characterized by the overproduction and excretion of coproporphyrin. The most common neurological manifestations of this entity include peripheral, pred...

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Bibliographic Details
Main Authors: Félix Javier Jiménez-Jiménez, José AG Agúndez, Carmen Martínez, Francisco Navacerrada, José Francisco Plaza-Nieto, Belén Pilo-de-la-Fuente, Hortensia Alonso-Navarro, Elena García-Martín
Format: Article
Language:English
Published: Ubiquity Press 2013-07-01
Series:Tremor and Other Hyperkinetic Movements
Online Access:https://tremorjournal.org/index.php/tremor/article/view/151

Internet

https://tremorjournal.org/index.php/tremor/article/view/151

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