Ontology highlight
ABSTRACT:
SUBMITTER: Abrams AJ
PROVIDER: S-EPMC6240357 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Abrams Alexander J AJ Fontanesi Flavia F Tan Natalie B L NBL Buglo Elena E Campeanu Ion J IJ Rebelo Adriana P AP Kornberg Andrew J AJ Phelan Dean G DG Stark Zornitza Z Zuchner Stephan S
Human mutation 20180917 12
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 nontruncating mutations, we found that the stability of the SLC25A46 protein inversely correlates with the severity of the disease and the patient's variant does not markedly destabilize the protein. SLC2 ...[more]