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Atypical clinical presentations of the A3243G mutation, usually associated with MELAS

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Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial abnormalities. In approximately 80% of patients, the syndrome is associated with the A3243G mutation. However, it has been realized that the A3243G mutation is not uncommon in the general population and is found in many patients with clinical presentations other than MELAS. We present four patients who presented with rhabdomyolysis, muscle fatigue, external ophthalmoplegia and myoclonic jerks respectively. These patients were all found to have the A3243G mutation on muscle biopsy. These patients illustrate the variety of presentations associated with A3243G mutation.

Keywords: MELAS syndrome; mitochondrial DNA; mitochondrial diseases; retinitis pigmentosa; rhabdomyolysis

Document Type: Research Article


Affiliations: 1: Anatomical Pathology and Chemical Pathology, Royal Brisbane and Women's Hospital 2: Departments of Neurology

Publication date: February 1, 2011


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