TY  - JOUR 
AU  - Beiras Iglesias, Andrés
AU  - Castro Gago, Manuel
AU  - Pintos Martínez, Elena
AU  - Dacruz Álvarez, David
PY  - 2014
SN  - 1090-3798
UR  - http://hdl.handle.net/20.500.11940/4531
LA  - eng
TI  - Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion
DO  - 10.1016/j.ejpn.2014.06.005
T2  - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
M2  - 796
VL  - 18
ER  -