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Muscle Coenzyme Q10 Deficiencies in Ataxia with Oculomotor Apraxia 1

Overview
Journal Neurology
Specialty Neurology
Date 2007 Jan 24
PMID 17242337
Citations 26
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Abstract

APTX gene mutations responsible for ataxia-oculomotor apraxia 1 (AOA1) were identified in a family previously reported with ataxia and coenzyme Q10 (CoQ10) deficiency. We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1.

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