Riboflavin-responsive exercise intolerance (RREI) is an autosomal recessive disorder with a neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness, and exercise intolerance. Supplementation with riboflavin, the precursor of flavin adenine dinucleotide (FAD), improves patients' clinical symptoms. It has been reported that mutations in SLC25A32 cause this disease. SLC25A32 encodes the mitochondrial FAD transporter.
Schiff M, Veauville-Merllie A, Su CH, Tzagoloff A, Rak M, Ogier de Baulny H, Boutron A, Smedts-Walters H, Romero NB, Rigal O, Rustin P, Vianey-Saban C, Acquaviva-Bourdain C
タイトル
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
