MCID: TK2002
MIFTS: 13

Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Aliases & Classifications for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

MalaCards integrated aliases for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form:

Name: Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form 24
Mitochondrial Dna Depletion Syndrome 2 , Myopathic Type 24
Tk2 Deficiency 24

Summaries for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

MalaCards based summary : Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form, also known as mitochondrial dna depletion syndrome 2 , myopathic type, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 and kearns-sayre syndrome. An important gene associated with Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form is TK2 (Thymidine Kinase 2). Affiliated tissues include liver and skeletal muscle.

GeneReviews: NBK114628

Related Diseases for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Graphical network of the top 20 diseases related to Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form:



Diseases related to Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Symptoms & Phenotypes for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Drugs & Therapeutics for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deoxythymidine and Deoxycytidine Treatment for Thymidine Kinase 2 (TK2) Deficiency Enrolling by invitation NCT03639701 Phase 1, Phase 2 Thymidine
2 A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2) Completed NCT03701568 dC/dT

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Anatomical Context for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

MalaCards organs/tissues related to Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form:

41
Liver, Skeletal Muscle

Publications for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Articles related to Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form:

(show all 45)
# Title Authors PMID Year
1
Retrospective natural history of thymidine kinase 2 deficiency. 38 4
29602790 2018
2
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene. 38 4
20421844 2010
3
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. 38 4
20083405 2010
4
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. 38 4
19815440 2010
5
Reversion of mtDNA depletion in a patient with TK2 deficiency. 38 4
12682338 2003
6
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. 4
29735374 2018
7
Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. 4
22345218 2012
8
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. 4
21138766 2011
9
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 4
19748572 2009
10
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations. 4
19736010 2009
11
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. 4
18819985 2008
12
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. 4
18508266 2008
13
A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion. 4
17951082 2008
14
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. 4
16908738 2006
15
New mutations in TK2 gene associated with mitochondrial DNA depletion. 4
16504786 2006
16
Mitochondrial myopathy simulating spinal muscular atrophy. 4
8888051 1996
17
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. 38
31125140 2019
18
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency. 38
31383553 2019
19
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice. 38
31351931 2019
20
Late-onset thymidine kinase 2 deficiency: a review of 18 cases. 38
31060578 2019
21
Extra-muscular manifestations of TK2 deficiency. 38
30013933 2018
22
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. 38
28318037 2017
23
Long term expression of Drosophila melanogaster nucleoside kinase in thymidine kinase 2-deficient mice with no lethal effects caused by nucleotide pool imbalances. 38
25296759 2014
24
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion. 38
25215937 2014
25
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. 38
24968719 2014
26
The contribution of mitochondrial thymidylate synthesis in preventing the nuclear genome stress. 38
24561807 2014
27
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. 38
23932787 2013
28
Transgene expression of Drosophila melanogaster nucleoside kinase reverses mitochondrial thymidine kinase 2 deficiency. 38
23288848 2013
29
Gene expression deregulation in postnatal skeletal muscle of TK2 deficient mice reveals a lower pool of proliferating myogenic progenitor cells. 38
23341978 2013
30
Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation. 38
23505564 2013
31
TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form 38
23230576 2012
32
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation. 38
20940150 2011
33
Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice. 38
22216345 2011
34
Tissue specific distribution of pyrimidine deoxynucleoside salvage enzymes shed light on the mechanism of mitochondrial DNA depletion. 38
20544526 2010
35
Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration. 38
20123860 2010
36
Retained sensitivity to cytotoxic pyrimidine nucleoside analogs in thymidine kinase 2 deficient human fibroblasts. 38
20391188 2010
37
Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts. 38
19154348 2009
38
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. 38
18467430 2008
39
Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency. 38
18021809 2008
40
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. 38
17483096 2007
41
Bromovinyl-deoxyuridine: A selective substrate for mitochondrial thymidine kinase in cell extracts. 38
16630572 2006
42
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. 38
16087914 2005
43
Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. 38
15639197 2005
44
Deoxyribonucleoside kinases in mitochondrial DNA depletion. 38
15571232 2004
45
mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. 38
12765840 2003

Variations for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

Expression for Tk2-Related Mitochondrial Dna Maintenance Defect, Myopathic Form

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