A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

AIFM1 is a gene located on the X chromosome, coding for AIF (Apoptosis-Inducing Factor), a mitochondrial flavoprotein involved in caspase-independent cell death. AIFM1 mutations have been associated with different clinical phenotypes: a severe infantile encephalopathy with combined oxidative phospho...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Diodato, Daria, Tasca, Giorgio, Verrigni, Daniela, D'Amico, Adele, Rizza, Teresa, Tozzi, Giulia, Martinelli, Diego, Verardo, Margherita, Invernizzi, Federica, Nasca, Alessia, Bellacchio, Emanuele, Ghezzi, Daniele, Piemonte, Fiorella, Dionisi-Vici, Carlo, Carrozzo, Rosalba, Bertini, Enrico
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Short Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755377/
https://ncbi.nlm.nih.gov/pubmed/26173962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.141
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