Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24198295.
- Also identified by DOI 10.1212/01.wnl.0000436931.94291.e6 and PMC identifier 3854830.
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Abstract
Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.(1.)
Medical subject headings
- DNA, Mitochondrial
- Gene Deletion
- Mutation
- Respiratory Insufficiency
- Thymidine Kinase