Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome‐9

BACKGROUND: Succinate‐CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in maintaining mtDNA integrity...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Yi‐ming, Chen, Wei, Xu, Yue, Lu, Chao‐sheng, Zhu, Mian‐mian, Sun, Rong‐yue, Wang, Yihong, Chen, Yuan, Shi, Jiaming, Wang, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482404/
https://www.ncbi.nlm.nih.gov/pubmed/35762302
http://dx.doi.org/10.1002/mgg3.2010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482404/
https://www.ncbi.nlm.nih.gov/pubmed/35762302
http://dx.doi.org/10.1002/mgg3.2010

Ejemplares similares