Thymidine kinase 2 deficiency
TK2 deficiency

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Prevalence (%) of clinical parameters based on data from 3 references describing 31 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Myopathy skeletal 100 % 11687801 2011-10-19
Myopathy skeletal 100 % 18819985 2011-10-11
Increased blood CK circulatory 100 % 18819985 2011-10-11
Muscle weakness skeletal 100 % 18819985 2011-10-11
Lactate accumulation circulatory 100 % 18819985 2011-10-11
Areflexia nervous 57 % 18819985 2011-10-11
Hypotonia nervous 57 % 18819985 2011-10-11
Seizures nervous 43 % 18819985 2011-10-11
Myopathy skeletal 20 % 12391347 2011-10-04
Cardiomyopathy circulatory 14 % 18819985 2011-10-11



List of references:


Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
A Saada, A Shaag, H Mandel, Y Nevo, S Eriksson, O Elpeleg,



Nature genetics - Nov 2001



Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Alexandra Götz, Pirjo Isohanni, Helena Pihko, Anders Paetau, Riitta Herva, Outi Saarenpää-Heikkilä, Leena Valanne, Sanna Marjavaara, Anu Suomalainen,



Brain : a journal of neurology - Nov 2008



Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
M Mancuso, L Salviati, S Sacconi, D Otaegui, P Camaño, A Marina, S Bacman, C T Moraes, J R Carlo, M Garcia, M Garcia-Alvarez, L Monzon, A B Naini, M Hirano, E Bonilla, A L Taratuto, S DiMauro, T H Vu,



Neurology - Oct 2002