![](/img/cover-not-exists.png)
Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion
Castro-Gago, Manuel, Dacruz-Alvarez, David, Pintos-Martínez, Elena, Beiras-Iglesias, Andrés, Delmiro, Aitor, Arenas, Joaquín, Martín, Miguel Ángel, Martínez-Azorín, FranciscoVolume:
18
Language:
english
Journal:
European Journal of Paediatric Neurology
DOI:
10.1016/j.ejpn.2014.06.005
Date:
November, 2014
File:
PDF, 1.07 MB
english, 2014