P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy
Title:
P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy
Author:
Villar-Quiles, R. Duband-Goulet, I. Cabet, E. Davignon, L. Genetti, C. Gidaro, T. Koparir, A. Yuksel, A. Coppens, S. Deconinck, N. Pierce-Hoffman, E. Juntas-Morales, R. Cossée, M. Servais, L. Olivé, M. Beggs, A. Böhm, J. Ferreiro, A.