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

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...

ver descrição completa

Detalhes bibliográficos
Main Authors: 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
Formato: Journal article
Idioma:English
Publicado em: Oxford University Press 2019

Registos relacionados

Registos relacionados