Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

OBJECTIVE: 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 childhood and progressing relentlessly. We i...

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Detaylı Bibliyografya
Yayımlandı:Ann Neurol
Asıl Yazarlar: Domínguez-González, Cristina, Madruga-Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre-Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín-Hernández, Elena, Morealejo-Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, del Vayo, Concepcion Álvarez, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres-Torronteras, Javier, Jimenez-Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2019
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586249/
https://ncbi.nlm.nih.gov/pubmed/31125140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25506
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