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A Novel Missense Mutation in AIFM1 Results in Axonal Polyneuropathy and Misassembly of OXPHOS Complexes
BACKGROUND AND PURPOSE: AIFM1 (apoptosis-inducing factor, mitochondrion-associated-1) in mitochondria has captured a great attention due to its well-described function in apoptosis. Mutations in AIFM1 have resulted in multiple clinical phenotypes, including CMTX4. These syndromes usually involve mul...
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| Publicado no: | Eur J Neurol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5693754/ https://ncbi.nlm.nih.gov/pubmed/28888069 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.13452 |
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