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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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Vydáno v:Eur J Neurol
Hlavní autoři: Hu, Bo, Wang, Michael, Castoro, Ryan, Simmons, Megan, Dortch, Richard, Yawn, Robin, Li, Jun
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
Témata:
On-line přístup: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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