Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA(Gln) m.4349C>T Variant

OBJECTIVE: Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA, among which, mutations in mitochondrial tRNA genes possessing prominent status. In most of the cases, however, the detailed molecular pathogenesis of these tRNA gene mutations...

Descripción completa

Detalles Bibliográficos
Autores principales: Ji, Kunqian, Wang, Wei, Lin, Yan, Xu, Xuebi, Liu, Fuchen, Wang, Dongdong, Zhao, Yuying, Yan, Chuanzhu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318088/
https://www.ncbi.nlm.nih.gov/pubmed/32588991
http://dx.doi.org/10.1002/acn3.51069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318088/
https://www.ncbi.nlm.nih.gov/pubmed/32588991
http://dx.doi.org/10.1002/acn3.51069

Ejemplares similares