Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup of patients shows a characteristic "limb girdle" pattern of muscle weakness, in which the muscles have small, simplified ne...

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מידע ביבליוגרפי
Main Authors:	Beeson, D, Higuchi, O, Palace, J, Cossins, J, Spearman, H, Maxwell, S, Newsom-Davis, J, Burke, G, Fawcett, P, Motomura, M, Müller, J, Lochmüller, H, Slater, C, Vincent, A, Yamanashi, Y
פורמט:	Journal article
שפה:	English
יצא לאור:	2006

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

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