Article
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Clinical genetics - 1 Apr 2020
Lee Jin Sook, Yoo Taekyeong, Lee Moses, Lee Youngha, Jeon Eunyoung, Kim Soo Yeon, Lim Byung Chan, Kim Ki Joong, Choi Murim, Chae Jong-Hee
Abstract excerpt
Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high degree of genetic heterogeneity in LS. To profile these genetic signatures and understand the pathophysiology of LS, we recruited 64 patients from 62 families who were...
Topics
- Adolescent
- Amino Acyl-tRNA Synthetases
- Brain
- Child
- Child, Preschool
- DNA, Mitochondrial
- Female
- Genetic Heterogeneity
- Genetic Testing
- Humans
- Infant