摘要
Riboflavin transporter deficiency(RTD),previously known as Brown-Vialetto-Van Laere syndrome,is a childhoodonset neurodegenerative disorder characterized by sensory and motor neuron degeneration causing ataxia,muscle weakness,optic atrophy,and respiratory failure.Mutations in SLC52A2 and SLC52A3,solute carrier family members that encode riboflavin(RF)transporters RFVT2 and RFVT3,are known to cause RTD types 2 and 3,respectively.
基金
support was provided by the Cure RTD Foundation and Australian Medical Research Future Fund(MRFF)Genomics Health Futures Mission Grant(No.2007681)
funded by the NIH Office of the Research Infrastructure programs(P400D010440).
