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Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.
Leigh syndrome is a progressive neurodegenerative syndrome caused by multiple mitochondrial DNA and nuclear DNA pathological variants. Patients with Leigh syndrome consistently have distinct brain lesions found on MRI scanning involving abnormal signal in the basal ganglia, brainstem and/or cerebell...
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| 發表在: | Mitochondrion |
|---|---|
| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2021
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8292191/ https://ncbi.nlm.nih.gov/pubmed/33894360 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2021.04.010 |
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