Variant: rs137854429 

    present in Gene: TK2
    present in Chromosome: 16
    Position on Chromosome: 66531394
    Alleles of this Variant: G/T

rs137854429 in TK2 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) PMID 12493767 2003 Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.

PMID 15907288 2005 Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

PMID 15639197 2005 Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

PMID 12391347 2002 Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

PMID 11687801 2001 Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

PMID 22345218 2012 Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.

PMID 25446393 2015 Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.