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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2013
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Original Articles
オンライン･アクセス: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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