SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters

This is the first report presenting mutations in both riboflavin transporters hRFVT-2 and hRFVT-3 in the same BVVLS patient. Also, c.62A > G [p.N21S] in SLC52A3 appears to contribute more to the disease phenotype in this patient than c.421C > A [p.P141T] in SLC52A2.