The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscul...

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Những tác giả chính:	Rodríguez Cruz, P, Cossins, J, De Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J, Beeson, D
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	Oxford University Press 2019

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

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