Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

1. Blanco-Arias, P.
2. Medina Martínez, I.
3. Arrabal Fernández, L.
4. Rivas Infante, E.
5. Salmerón Fernández, M.J.
6. González Hervás, C.
7. Azcón González de Aguilar, P.
8. Armengol, L.
9. Pedrinaci, S.
10. Perin, F.