Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
(2017)
Journal Article
Manole, A., Jaunmuktane, Z., Hargreaves, I., Ludtmann, M. H. R., Pandraud, A., Salpietro, V., …Houlden, H. (2017). Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain, 140(11), 2820-2837. https://doi.org/10.1093/brain/awx231
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflav... Read More about Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.