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., Pope, S., Horga, A., Scalco, R. S., Li, A., Ashokkumar, B., Lourenço, C. M., Horvath, R., Chinnery, P. F., Toro, C., Singleton, A. B., Abramov, A. Y., Muntoni, F., Hanna, F. G., Reilly, M. M., …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.