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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Journal article
Iaith:English
Cyhoeddwyd: 2006