Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

BACKGROUND AND OBJECTIVE: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction. We performed whole exome sequencing to unravel the genetic aetiology in an English sib pair with clinical features suggestiv...

Descripción completa

Detalles Bibliográficos
Autores principales: Chaouch, Amina, Porcelli, Vito, Cox, Daniel, Edvardson, Shimon, Scarcia, Pasquale, De Grassi, Anna, Pierri, Ciro L., Cossins, Judith, Laval, Steven H., Griffin, Helen, Müller, Juliane S., Evangelista, Teresinha, Töpf, Ana, Abicht, Angela, Huebner, Angela, von der Hagen, Maja, Bushby, Kate, Straub, Volker, Horvath, Rita, Elpeleg, Orly, Palace, Jacqueline, Senderek, Jan, Beeson, David, Palmieri, Luigi, Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746751/
https://www.ncbi.nlm.nih.gov/pubmed/26870663
http://dx.doi.org/10.3233/JND-140021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746751/
https://www.ncbi.nlm.nih.gov/pubmed/26870663
http://dx.doi.org/10.3233/JND-140021

Ejemplares similares