Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.

Neuromuscular disorders : NMD - 1 Mar 2010

Lesko Nicole, Naess Karin, Wibom Rolf, Solaroli Nicola, Nennesmo Inger, von Döbeln Ulrika, Karlsson Anna, Larsson Nils-Göran

Abstract excerpt

Deficiency of thymidine kinase-2 (TK2) has been described in children with early onset fatal skeletal myopathy. TK2 is a mitochondrial deoxyribonucleoside kinase required for the phosphorylation of deoxycytidine and deoxythymidine and hence is vital for the maintenance of a balanced mitochondrial dNTP pool in post-mitotic tissues. We describe a patient with two novel TK2 mutations, which caused disease onset...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphate
Share to Arginine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria, Muscle

Share to Mitochondrial Diseases

Share to Mitochondrial Encephalomyopathies

Share to Muscle, Skeletal

Share to Thymidine Kinase

Share to Tryptophan

Source

Identifiers

PMID: 20083405
DOI: 10.1016/j.nmd.2009.11.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.PMID 20083405Read ↗

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndromeSemantic proximity Read ↗

Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging TherapiesSemantic proximity Read ↗

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.Semantic proximity Read ↗

Late-onset thymidine kinase 2 deficiency: a review of 18 casesSemantic proximity Read ↗

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

Retrospective natural history of thymidine kinase 2 deficiency.Semantic proximity Read ↗

New mutations in TK2 gene associated with mitochondrial DNA depletion.Semantic proximity Read ↗

Clinical and Genetic Analysis of Patients With TK2 DeficiencySemantic proximity Read ↗

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiencySemantic proximity Read ↗

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.Semantic proximity Read ↗

Pathological Features in Paediatric Patients with TK2 DeficiencySemantic proximity Read ↗

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.