A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report

We discuss the involvement of nuclear genetic variants correlating to observed phenotype in this case study. In January 2020, the 19-year-old boy from Nantong, Jiangsu Province, China with epilepsy symptom was identified to have myelin loss in the motor and sensory nerves in the electromyogram exami...

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Detalles Bibliográficos
Autores principales: Chu, Xin, Dai, Jie, Cui, Hengxiang, Shen, Hailin, Wu, Qi, Zhu, Xiangyang, Zhu, Baofeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874192/
https://www.ncbi.nlm.nih.gov/pubmed/36742238
http://dx.doi.org/10.18502/ijph.v51i12.11473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874192/
https://www.ncbi.nlm.nih.gov/pubmed/36742238
http://dx.doi.org/10.18502/ijph.v51i12.11473

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