Insights into the genotype‐phenotype correlation and molecular function of SLC25A46

Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a patient with optic atrophy, peripheral neuropathy, ataxia, but not cerebellar atrophy, who is on the mildest end of the phenotypic spectrum. By studying seven different nont...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Human mutation 2018-12, Vol.39 (12), p.1995-2007
Hauptverfasser:	Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia Atrophy Cerebellum Cristae Genotypes Mitochondria Molecular modelling Mutation Neurodegenerative diseases Optic atrophy Peripheral neuropathy Phenotypes Proteins SLC25A46
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!