Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness. 著者: Beeson, D, Higuchi, O, Palace, J, Newsom-Davis, J, Vincent, A, Yamanashi, Y

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. 著者: Hamuro, J, Higuchi, O, Okada, K, Ueno, M, Iemura, S, Natsume, T, Spearman, H, Beeson, D, Yamanashi, Y

Dok-7 mutations underlie a neuromuscular junction synaptopathy. 著者: 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