Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Tulinius, Már

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. [electronic resource] - Neuromuscular disorders : NMD Jun 2005 - 412-5 p. digital

Publication Type: Case Reports; Journal Article

0960-8966

10.1016/j.nmd.2005.03.010 doi


Amino Acid Sequence
Biopsy
DNA, Mitochondrial--genetics
Fatal Outcome
Female
Heterozygote
Humans
Infant
Mitochondrial Myopathies--genetics
Molecular Sequence Data
Phenotype
Siblings
Thymidine Kinase--genetics