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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Những tác giả chính: Cossins, J, Belaya, K, Hicks, D, Salih, M, Finlayson, S, Carboni, N, Liu, W, Maxwell, S, Zoltowska, K, Farsani, G, Laval, S, Seidhamed, M, Donnelly, P, Bentley, D, McGowan, S, Müller, J, Palace, J, Lochmüller, H, Beeson, D
Định dạng: Journal article
Được phát hành: 2013