Article

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

2017-02-22

Abstract excerpt

Brown-Vialetto-Van Laere syndrome (BVVLS) represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter (RFVT) genes, SLC52A2 and SLC52A3, have recently been linked to BVVLS. However, the genetic frequency, neuropathology and downstream consequen...

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Literature Corpus work: 5039ef83-1e9a-52db-9ca3-fbb44343c8d6
DOI: 10.1101/110890

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