Abstract
Introduction: MELAS syndrome is a mitochondrial (mt) DNA disorder with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes as main features. Fourteen different point mutations in six different mitochondrial tRNA genes have been identified so far. The clinical course is progressive leading to mental deterioration and neurological deficits. We report on the first identification of a heteroplasmic point mutation in the mitochondrial tRNA gene for Methionine.
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