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A review of 149 cases, including our cohort of 76 patients, confirms that CoQ10 deficiency is a clinically and genetically heterogeneous syndrome that mainly begins in childhood and predominantly manifests as cerebellar ataxia. Coenzyme Q10 measurement in muscle is the gold standard for diagnosis. Identification of CoQ10 deficiency is important because the condition frequently responds to treatment. Causative mutations have been identified in a small proportion of patients. |
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