Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

OBJECTIVE: 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic f...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5847115/
https://ncbi.nlm.nih.gov/pubmed/29205472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25110
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados