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线粒体DNA 8344 A>G突变导致的MELAS/MERRF/Leigh重叠综合征
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...
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| Publicat a: | Beijing Da Xue Xue Bao Yi Xue Ban |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
北京大学学报(医学版)编辑部
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7653412/ https://ncbi.nlm.nih.gov/pubmed/33047718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.19723/j.issn.1671-167X.2020.05.009 |
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