Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. We performed linkage analysis, whole-exome and whole-genome sequencing to determine the und...

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Bibliografiska uppgifter
Huvudupphovsmän: Cossins, Judith, Belaya, Katsiaryna, Hicks, Debbie, Salih, Mustafa A., Finlayson, Sarah, Carboni, Nicola, Liu, Wei Wei, Maxwell, Susan, Zoltowska, Katarzyna, Farsani, Golara Torabi, Laval, Steven, Seidhamed, Mohammed Zain, Donnelly, Peter, Bentley, David, McGowan, Simon J., Müller, Juliane, Palace, Jacqueline, Lochmüller, Hanns, Beeson, David
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2013
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Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3580273/
https://ncbi.nlm.nih.gov/pubmed/23404334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt010
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