A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome

A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome

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Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and R...

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Bibliographic Details
Main Authors: Soreya BELARBI, Samira Makri MOKRANE
Format: Article
Language:English
Published: University of Oran 1 2022-06-01
Series:Journal de la Faculté de Médecine d'Oran
Subjects:
Brown-Viletto-Van-Laere syndrome
SLC52A2
Riboflavin transporter
Online Access:https://confajol3.ajol.info/index.php/jmfo/article/view/708

Internet

https://confajol3.ajol.info/index.php/jmfo/article/view/708

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