TY  - GEN
AU  - Castro-Gago,Manuel
AU  - Dacruz-Alvarez,David
AU  - Pintos-Martínez,Elena
AU  - Beiras-Iglesias,Andrés
AU  - Delmiro,Aitor
AU  - Arenas,Joaquín
AU  - Martín,Miguel Ángel
AU  - Martínez-Azorín,Francisco
TI  - Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion
SN  - 1532-2130
PY  - 2015///0710
KW  - Child, Preschool
KW  - Choline Kinase
KW  - genetics
KW  - DNA, Mitochondrial
KW  - Exome
KW  - Humans
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - complications
KW  - Mitochondrial Myopathies
KW  - Mutation
KW  - Spain
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejpn.2014.06.005
ER  -