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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions
- Source :
- Neurology. 81:2051-2053
- Publication Year :
- 2013
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2013.
-
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.)
- Subjects :
- Genetics
Mitochondrial DNA
Mutation
Nuclear gene
Age Factors
Late onset
Biology
medicine.disease_cause
DNA, Mitochondrial
Thymidine Kinase
Phenotype
chemistry.chemical_compound
Respiratory failure
chemistry
Thymidine kinase
medicine
Humans
Female
Neurology (clinical)
Respiratory Insufficiency
Clinical/Scientific Notes
Gene Deletion
DNA
Aged
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 81
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....2b4f314ae633a94254965ee9d62adcde