Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Dok-7 is a cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MuSK). Both Dok-7 and MuSK are required for neuromuscular synaptogenesis. Mutations in DOK7 underlie a congenital myasthenic syndrome (CMS) associated with small and simplified neuromuscular synapses likely due to impaired...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Hamuro, J, Higuchi, O, Okada, K, Ueno, M, Iemura, S, Natsume, T, Spearman, H, Beeson, D, Yamanashi, Y
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2008

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