Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial comp...

Full description

Bibliographic Details
Main Authors: Yi Shiau Ng, Kyle Thompson, Daniela Loher, Sila Hopton, Gavin Falkous, Steven A. Hardy, Andrew M. Schaefer, Sandip Shaunak, Mark E. Roberts, James B. Lilleker, Robert W. Taylor
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
mitochondrial DNA
muscle biopsy
myopathy
deafness
tissue segregation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00024/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00024/full

Similar Items