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Adult Phenotypic Spectrum of Headache, Myopathy and Ischemic Stroke Associated with Mitochondrial POLG Mutation

Journal: Austin Journal of Cerebrovascular Disease & Stroke (Vol.1, No. 5)

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Authors : ; ; ;

Page : 1-3

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Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease. We reported a rare case presenting with adult phenotypic spectrum of headache, myopathy, and ischemic stroke associated with POLG1 heterozygote mutation. This should be classified as a distinct clinical entity rather than an atypical MELAS syndrome.

Last modified: 2016-07-12 20:16:39