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

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

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...

Full description

Bibliographic Details
Main Authors: Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang, Jingmin Wang
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Brown-Vialetto-Van Laere syndrome
SLC52A2
Sensorineural hearing loss
Breath holding spells
Online Access:http://link.springer.com/article/10.1186/s12881-019-0811-1

Internet

http://link.springer.com/article/10.1186/s12881-019-0811-1

Similar Items