TY  - JOUR
AU  - Domínguez-González, Cristina
AU  - Madruga-Garrido, Marcos
AU  - Mavillard, Fabiola
AU  - Garone, Caterina
AU  - Aguirre-Rodríguez, Francisco Javier
AU  - Donati, M Alice
AU  - Kleinsteuber, Karin
AU  - Martí, Itxaso
AU  - Martín-Hernández, Elena
AU  - Morealejo-Aycinena, Juan P
AU  - Munell, Francina
AU  - Nascimento, Andrés
AU  - Kalko, Susana G
AU  - Sardina, M Dolores
AU  - Álvarez Del Vayo, Concepcion
AU  - Serrano, Olga
AU  - Long, Yuelin
AU  - Tu, Yuqi
AU  - Levin, Bruce
AU  - Thompson, John L P
AU  - Engelstad, Kristen
AU  - Uddin, Jasim
AU  - Torres-Torronteras, Javier
AU  - Jimenez-Mallebrera, Cecilia
AU  - Martí, Ramon
AU  - Paradas, Carmen
AU  - Hirano, Michio
PY  - 2019
DO  - 10.1002/ana.25506
UR  - http://hdl.handle.net/10668/14012
T2  - Annals of neurology
AB  - Thymidine kinase 2, encoded by the nuclear gene TK2, is required for mitochondrial DNA maintenance. Autosomal recessive TK2 mutations cause depletion and multiple deletions of mtDNA that manifest predominantly as a myopathy usually beginning in...
LA  - en
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Compassionate Use Trials
KW  - Deoxyribonucleosides
KW  - Female
KW  - Humans
KW  - Male
KW  - Muscular Diseases
KW  - Thymidine Kinase
KW  - Walk Test
TI  - Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
TY  - research article
VL  - 86
ER  -