TY  - JOUR
AU  - Garone, Caterina
AU  - Taylor, Robert W
AU  - Nascimento, Andrés
AU  - Poulton, Joanna
AU  - Fratter, Carl
AU  - Domínguez-González, Cristina
AU  - Evans, Julie C
AU  - Loos, Mariana
AU  - Isohanni, Pirjo
AU  - Suomalainen, Anu
AU  - Ram, Dipak
AU  - Hughes, M Imelda
AU  - McFarland, Robert
AU  - Barca, Emanuele
AU  - Lopez Gomez, Carlos
AU  - Jayawant, Sandeep
AU  - Thomas, Neil D
AU  - Manzur, Adnan Y
AU  - Kleinsteuber, Karin
AU  - Martin, Miguel A
AU  - Kerr, Timothy
AU  - Gorman, Grainne S
AU  - Sommerville, Ewen W
AU  - Chinnery, Patrick F
AU  - Hofer, Monika
AU  - Karch, Christoph
AU  - Ralph, Jeffrey
AU  - Cámara, Yolanda
AU  - Madruga-Garrido, Marcos
AU  - Domínguez-Carral, Jana
AU  - Ortez, Carlos
AU  - Emperador, Sonia
AU  - Montoya, Julio
AU  - Chakrapani, Anupam
AU  - Kriger, Joshua F
AU  - Schoenaker, Robert
AU  - Levin, Bruce
AU  - Thompson, John L P
AU  - Long, Yuelin
AU  - Rahman, Shamima
AU  - Donati, Maria Alice
AU  - DiMauro, Salvatore
AU  - Hirano, Michio
PY  - 2018
DO  - 10.1136/jmedgenet-2017-105012
UR  - http://hdl.handle.net/10668/12291
T2  - Journal of medical genetics
AB  - Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult...
LA  - en
KW  - clinical genetics
KW  - metabolic disorders
KW  - muscle disease
KW  - neuromuscular disease
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Proteins
KW  - Muscle, Skeletal
KW  - Muscular Diseases
KW  - Mutation
KW  - Phenotype
KW  - Retrospective Studies
KW  - Survival Analysis
KW  - Thymidine Kinase
KW  - Young Adult
TI  - Retrospective natural history of thymidine kinase 2 deficiency.
TY  - research article
VL  - 55
ER  -