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Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome

2 Aug 2012

Abstract excerpt

Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several individuals with BVVLS. Exome sequencing of just one single case revealed that compound...

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PMID: 22864630
DOI: 10.1007/s10545-012-9513-y

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Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndromePMID 22864630Read ↗

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