TY  - GEN
AU  - Tulinius,Már
AU  - Moslemi,Ali-Reza
AU  - Darin,Niklas
AU  - Holme,Elisabeth
AU  - Oldfors,Anders
TI  - Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion
SN  - 0960-8966
PY  - 2005///0725
KW  - Amino Acid Sequence
KW  - Biopsy
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Fatal Outcome
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Mitochondrial Myopathies
KW  - Molecular Sequence Data
KW  - Phenotype
KW  - Siblings
KW  - Thymidine Kinase
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2005.03.010
ER  -