Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.4...

Descripción completa

Detalles Bibliográficos
Autores principales: Papadimas, George K., Vargiami, Efthimia, Dragoumi, Pinelopi, Van Coster, Rudy, Smet, Joel, Seneca, Sara, Papadopoulos, Constantinos, Kararizou, Evangelia, Zafeiriou, Dimitrios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460728/
https://www.ncbi.nlm.nih.gov/pubmed/32904881
http://dx.doi.org/10.36185/2532-1900-012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460728/
https://www.ncbi.nlm.nih.gov/pubmed/32904881
http://dx.doi.org/10.36185/2532-1900-012

Ejemplares similares