Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

Autor:	Langping He, Anna Karlsson, Pravrutha Raman, Aashish Vyas, Nicola Solaroli, Charlotte L. Alston, Andrew Schaefer, Douglass M. Turnbull, Mark S. Roberts, Kate Craig, Grainne S. Gorman, Kim J. Krishnan, John Nixon, Emma L. Blakely, Rita Horvath, Robert W. Taylor
Rok vydání:	2013
Předmět:	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
Zdroj:	Neurology. 81:2051-2053
ISSN:	1526-632X 0028-3878
DOI:	10.1212/01.wnl.0000436931.94291.e6
Popis:	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.)
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4f314ae633a94254965ee9d62adcde https://doi.org/10.1212/01.wnl.0000436931.94291.e6 Zobrazit plný text záznamu