Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

1. Cotrina-Vinagre, F.J.
2. Rodríguez-García, M.E.
3. del Pozo-Filíu, L.
4. Hernández-Laín, A.
5. Arteche-López, A.
6. Morte, B.
7. Sevilla, M.
8. Pérez-Jurado, L.A.
9. Quijada-Fraile, P.
10. Camacho, A.
11. Martínez-Azorín, F.