SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Manuel Schiff,Alice Veauville-Merllié,Chen Hsien Su,Alexander Tzagoloff,Malgorzata Rak,Hélène Ogier de Baulny,Audrey Boutron, Hélène Smedts-Walters,Norma B. Romero,Odile Rigal,Pierre Rustin,Christine Vianey-Saban,C. Acquaviva-Bourdain

NEW ENGLAND JOURNAL OF MEDICINE（2016）

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摘要

A patient with late-onset exercise intolerance had haploinsufficiency of SLC25A32, which encodes the human mitochondrial flavin adenine dinucleotide transporter. The patientu0027s symptoms were highly responsive to oral supplementation with riboflavin.

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