Article
[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Oct 2020
Hou Y, Zhao X T, Xie Z Y, Yuan Y, Wang Z X
Abstract excerpt
OBJECTIVE: Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation. METHODS: The clinical and imaging...
Topics
- Acidosis, Lactic
- Adult
- Child
- DNA, Mitochondrial
- Humans
- Male
- Mitochondrial Encephalomyopathies
- Mutation
- Stroke
- Young Adult