Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Abstract excerpt

BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. METHODS: We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with...

Topics

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

• Share to Chronic Lymphocytic Leukemia Research
• Share to Glycogen Storage Diseases and Myoclonus
• Share to Mitochondrial Function and Pathology