Article
Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study.
Mitochondrion - 1 Jan 2022
Shi Yuqing, Chen Guohong, Sun Dan, Hu Chaoping, Liu Zhimei, Shen Danmin, Wang Junling, Song Tianyu, Zhang Weihua, Li Jiuwei, Ren Xiaotun, Han Tongli, Ding Changhong, Wang Yi, Fang Fang
Abstract excerpt
Mitochondrial DNA (mtDNA) associated mitochondrial diseases hold a crucial position but comprehensive and systematic studies are relatively rare. Among the 262 patients of four children's hospitals in China, 96%-point mutations (30 alleles in 11 genes encoding tRNA, rRNA, Complex I and V) and 4%-deletions (seven of ten had not been reported before) were identified as the cause of 14 phenotypes. MILS presented the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.