Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

The aim of this study was to evaluate the contribution of mitochondrial DNA (mtDNA) mutations in oxidative phosphorylation (OXPHOS) deficiency. The complete mitochondrial genomes of 41 families with OXPHOS deficiency were screened for mutations. Mitochondrial functional analysis was then performed i...

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Detalles Bibliográficos
Autores principales: Fang, Hezhi, Shi, Hao, Li, Xiyuan, Sun, Dayan, Li, Fengjie, Li, Bin, Ding, Yuan, Ma, Yanyan, Liu, Yupeng, Zhang, Yao, Shen, Lijun, Bai, Yidong, Yang, Yanling, Lu, Jianxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444849/
https://www.ncbi.nlm.nih.gov/pubmed/26014388
http://dx.doi.org/10.1038/srep10480

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444849/
https://www.ncbi.nlm.nih.gov/pubmed/26014388
http://dx.doi.org/10.1038/srep10480

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