Article
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.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2016
Udhayabanu Tamilarasan, Subramanian Veedamali S, Teafatiller Trevor, Gowda Vykuntaraju K, Raghavan Varun S, Varalakshmi Perumal, Said Hamid M, Ashokkumar Balasubramaniem
Abstract excerpt
BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. METHODS: Here we present a 16-year-old BVVLS patient belonging to a five generation consanguineous family from Indian ethnicity with two homozygous missense mutations...
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