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

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 signific...

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Detalles Bibliográficos
Autores principales: Shi, Kaili, Shi, Zhen, Yan, Huifang, Wang, Xiaodong, Yang, Yanling, Xiong, Hui, Gu, Qiang, Wu, Ye, Jiang, Yuwu, Wang, Jingmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505200/
https://www.ncbi.nlm.nih.gov/pubmed/31064337
http://dx.doi.org/10.1186/s12881-019-0811-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505200/
https://www.ncbi.nlm.nih.gov/pubmed/31064337
http://dx.doi.org/10.1186/s12881-019-0811-1

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