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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...
Autores principales: | Chu, Xin, Dai, Jie, Cui, Hengxiang, Shen, Hailin, Wu, Qi, Zhu, Xiangyang, Zhu, Baofeng |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2022
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Materias: | |
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 |
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