A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
About this item
Full title
Author / Creator
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 and Bertini, Enrico
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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 phosphorylation deficiency and the Cowchock syndrome, an...
Alternative Titles
Full title
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4755377
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4755377
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.141
