Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

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 riboflavin transporter genes, SLC52A2 and SLC52A3, have re...

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Detalles Bibliográficos
Autores principales: Manole, Andreea, Jaunmuktane, Zane, Hargreaves, Iain, Ludtmann, Marthe H R, Salpietro, Vincenzo, Bello, Oscar D, Pope, Simon, Pandraud, Amelie, Horga, Alejandro, Scalco, Renata S, Li, Abi, Ashokkumar, Balasubramaniem, Lourenço, Charles M, Heales, Simon, Horvath, Rita, Chinnery, Patrick F, Toro, Camilo, Singleton, Andrew B, Jacques, Thomas S, Abramov, Andrey Y, Muntoni, Francesco, Hanna, Michael G, Reilly, Mary M, Revesz, Tamas, Kullmann, Dimitri M, Jepson, James E C, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808726/
https://www.ncbi.nlm.nih.gov/pubmed/29053833
http://dx.doi.org/10.1093/brain/awx231

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