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Article

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Human mutation - 1 Dec 2018

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 30178502
DOI: 10.1002/humu.23639
PMCID: PMC6240357

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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