Article
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Molecular genetics and metabolism - 1 Jan 2000
Chanprasert Sirisak, Wang Jing, Weng Shao-Wen, Enns Gregory M, Boué Daniel R, Wong Brenda L, Mendell Jerry R, Perry Deborah A, Sahenk Zarife, Craigen William J, Alcala Francisco J Climent, Pascual Juan M, Melancon Serge, Zhang Victor Wei, Scaglia Fernando, Wong Lee-Jun C
Abstract excerpt
Mitochondrial DNA (mtDNA) depletion syndromes (MDSs) are a clinically and molecularly heterogeneous group of mitochondrial cytopathies characterized by severe mtDNA copy number reduction in affected tissues. Clinically, MDSs are mainly categorized as myopathic, encephalomyopathic, hepatocerebral, or multi-systemic forms. To date, the myopathic form of MDS is mainly caused by mutations in the TK2 gene, which...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.