Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

1. Castro-Gago, M.
2. Dacruz-Alvarez, D.
3. Pintos-Martínez, E.
4. Beiras-Iglesias, A.
5. Delmiro, A.
6. Arenas, J.
7. Martín, M.Á.
8. Martínez-Azorín, F.