TY  - JOUR 
AU  - Melia, Maria J.
AU  - Kubota, Akatsuki
AU  - Ortolano, Saida
AU  - Vilchez, Juan J.
AU  - Gamez, Josep
AU  - Tanji, Kurenai
AU  - Bonilla, Eduardo
AU  - Palenzuela, Lluis
AU  - Fernandez-Cadenas, Israel
AU  - Pristoupilova, Anna
AU  - Garcia-Arumi, Elena
AU  - Andreu, Antoni L.
AU  - Navarro Fernández-Balbuena, Carmen
AU  - Hirano, Michio
AU  - Marti, Ramon
PY  - 2013
SN  - 0006-8950
UR  - http://hdl.handle.net/20.500.11940/2341
AB  - In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive. Here, using a whole genome sequencing...
LA  - eng
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Gene Deletion
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Pedigree
KW  - beta Karyopherins
TI  - Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
DO  - 10.1093/brain/awt074
T2  - BRAIN
M2  - 1508
VL  - 136
ER  -