Article
Whole-exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees.
American journal of medical genetics. Part A - 1 Apr 2022
Yang Zhihua, Cao Jun, Song Yucen, Li Suyi, Jiao Zhihui, Ren Shumin, Gao Xu, Zhang Suqin, Liu Jingjing, Chen Yibing
Abstract excerpt
Leigh syndrome (LS), the most common mitochondrial disease in early childhood, usually manifests variable neurodegenerative symptoms and typical brain magnetic resonance imaging (MRI) lesions. To date, pathogenic variants in more than 80 genes have been identified. However, there are still many cases without molecular diagnoses, and thus more disease-causing variants need to be unveiled. Here, we presented three...
Topics
- Aspartate-tRNA Ligase
- Child, Preschool
- China
- Humans
- Leigh Disease
- Mutation
- Pedigree
- Exome Sequencing