Article
Atypical clinical presentations of the A3243G mutation, usually associated with MELAS.
Internal medicine journal - 1 Feb 2011
Blum S, Robertson T, Klingberg S, Henderson R D, McCombe P
Abstract excerpt
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 mutatio...
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