TY  - GEN
AU  - Strang-Karlsson,Sonja
AU  - Johnson,Katherine
AU  - Töpf,Ana
AU  - Xu,Liwen
AU  - Lek,Monkol
AU  - MacArthur,Daniel G
AU  - Casar-Borota,Olivera
AU  - Williams,Maria
AU  - Straub,Volker
AU  - Wallgren-Pettersson,Carina
TI  - A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair
SN  - 1873-2364
PY  - 2019///1022
KW  - Adolescent
KW  - Child
KW  - Dystroglycans
KW  - metabolism
KW  - Female
KW  - Humans
KW  - Male
KW  - Muscle Weakness
KW  - genetics
KW  - Muscle, Skeletal
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Mutation, Missense
KW  - Protein Kinases
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2018.04.012
ER  -