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Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report
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We report a case of 25 years old male presented with a complex phenotype of myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS) harbouring m.3252A>G mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) [MT-TL1] gene encoding the mitochondrial transfer ribonucleic acid (tRNA) for leucine. He presented with frequent myoclonus seizure, stroke-like episodes, elevated blood lactate with muscle biopsy showed numerous ragged-red fibers suggestive of a mitochondrial disorder. Whole mitochondrial genome sequencing revealed no mutations other than the A-to-G transition at nucleotide position 3252. This case report is the first to describe the m.3252A>G mutation in association with the MERRF/MELAS overlap syndrome.
ASEAN Neurological Association
Title: Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report
Description:
We report a case of 25 years old male presented with a complex phenotype of myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS) harbouring m.
3252A>G mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) [MT-TL1] gene encoding the mitochondrial transfer ribonucleic acid (tRNA) for leucine.
He presented with frequent myoclonus seizure, stroke-like episodes, elevated blood lactate with muscle biopsy showed numerous ragged-red fibers suggestive of a mitochondrial disorder.
Whole mitochondrial genome sequencing revealed no mutations other than the A-to-G transition at nucleotide position 3252.
This case report is the first to describe the m.
3252A>G mutation in association with the MERRF/MELAS overlap syndrome.
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