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

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.