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...

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Publicado no:J Neuromuscul Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746751/
https://ncbi.nlm.nih.gov/pubmed/26870663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-140021
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