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Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO
OBJECTIVE: To determine the pathogenicity of a novel POLG mutation in a man with late-onset autosomal recessive progressive external ophthalmoplegia using clinical, molecular, and biochemical analyses. METHODS: A multipronged approach with detailed neurologic examinations, muscle biopsy analyses, mo...
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| Veröffentlicht in: | Neurol Genet |
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| Hauptverfasser: | , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6975171/ https://ncbi.nlm.nih.gov/pubmed/32042919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000391 |
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