A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

• Main Authors: Kaili Shi (Author), Zhen Shi (Author), Huifang Yan (Author), Xiaodong Wang (Author), Yanling Yang (Author), Hui Xiong (Author), Qiang Gu (Author), Ye Wu (Author), Yuwu Jiang (Author), Jingmin Wang (Author)
• Format: Book
• Published: BMC, 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52A2 and SLC52A3 genes. Clinical outcomes have been shown to be improved...