TY  - GEN
AU  - Barøy,Tuva
AU  - Pedurupillay,Christeen Ramane J
AU  - Bliksrud,Yngve T
AU  - Rasmussen,Magnhild
AU  - Holmgren,Asbjørn
AU  - Vigeland,Magnus D
AU  - Hughes,Timothy
AU  - Brink,Maaike
AU  - Rodenburg,Richard
AU  - Nedregaard,Bård
AU  - Strømme,Petter
AU  - Frengen,Eirik
AU  - Misceo,Doriana
TI  - A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
SN  - 1878-0849
PY  - 2017///0210
KW  - Child
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Exome
KW  - F-Box Proteins
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Male
KW  - Metabolism, Inborn Errors
KW  - Mitochondrial Encephalomyopathies
KW  - epidemiology
KW  - Muscle, Skeletal
KW  - pathology
KW  - Mutation, Missense
KW  - Norway
KW  - Ubiquitin-Protein Ligases
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2016.05.005
ER  -