AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1, has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually ear...

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Detalles Bibliográficos
Publicado en:Cold Spring Harb Mol Case Stud
Main Authors: Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334471/
https://ncbi.nlm.nih.gov/pubmed/28299359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001560
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