TY  - JOUR
AU  - Domínguez-González, Cristina
AU  - Hernández-Laín, Aurelio
AU  - Rivas, Eloy
AU  - Hernández-Voth, Ana
AU  - Sayas Catalán, Javier
AU  - Fernández-Torrón, Roberto
AU  - Fuiza-Luces, Carmen
AU  - García García, Jorge
AU  - Morís, Germán
AU  - Olivé, Montse
AU  - Miralles, Frances
AU  - Díaz-Manera, Jordi
AU  - Caballero, Candela
AU  - Méndez-Ferrer, Bosco
AU  - Martí, Ramon
AU  - García Arumi, Elena
AU  - Badosa, María Carmen
AU  - Esteban, Jesús
AU  - Jimenez-Mallebrera, Cecilia
AU  - Blazquez Encinar, Alberto
AU  - Arenas, Joaquín
AU  - Hirano, Michio
AU  - Martin, Miguel Ángel
AU  - Paradas, Carmen
PY  - 2019
DO  - 10.1186/s13023-019-1071-z
UR  - http://hdl.handle.net/10668/3171
T2  - Orphanet Journal of Rare Diseases
AB  - Background: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial...
LA  - en
PB  - BioMed Central Ltd.
KW  - TK2 deficiency
KW  - Mitochondrial myopathy
KW  - Multiple deletions
KW  - Timidina quinasa
KW  - Miopatías mitocondriales
KW  - Gene delention
KW  - Eliminación de gen
KW  - DNA, mitochondrial
KW  - ADN mitocondrial
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adolescent
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child
KW  - Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrial
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies
KW  - Medical Subject Headings::Anatomy::Musculoskeletal System::Muscles::Muscle, Skeletal
KW  - Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult
TI  - Late-onset thymidine kinase 2 deficiency: a review of 18 cases
TY  - research article
ER  -