TY  - GEN
AU  - Roos,Sara
AU  - Darin,Niklas
AU  - Kollberg,Gittan
AU  - Andersson Grönlund,Marita
AU  - Tulinius,Mar
AU  - Holme,Elisabeth
AU  - Moslemi,Ali-Reza
AU  - Oldfors,Anders
TI  - A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy
SN  - 1476-5438
PY  - 2013///1017
KW  - Adolescent
KW  - Anticodon
KW  - genetics
KW  - Base Pairing
KW  - Base Sequence
KW  - Cell Respiration
KW  - physiology
KW  - Cytochrome-c Oxidase Deficiency
KW  - Histological Techniques
KW  - Humans
KW  - Male
KW  - Mitochondrial Encephalomyopathies
KW  - Molecular Sequence Data
KW  - Muscle, Skeletal
KW  - pathology
KW  - Mutation
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Restriction Fragment Length
KW  - RNA, Transfer, Arg
KW  - Sequence Analysis, DNA
KW  - Sweden
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2012.153
ER  -