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Pathological Features in Paediatric Patients with TK2 Deficiency

20 Sept 2022

Abstract excerpt

Thymidine kinase (TK2) deficiency causes mitochondrial DNA depletion syndrome. We aimed to report the clinical, biochemical, genetic, histopathological, and ultrastructural features of a cohort of paediatric patients with TK2 deficiency. Mitochondrial DNA was isolated from muscle biopsies to assess depletions and deletions. The TK2 genes were sequenced using Sanger sequencing from genomic DNA. All muscle biopsies...

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PMID: 36232299
DOI: 10.3390/ijms231911002

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