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Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation. The involvement of other organ systems, including the central and peripheral nervous system, heart, and extraocular muscles, has not be...

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Detalles Bibliográficos
Autores principales: Xu, Qingdan, Sun, Ping, Feng, Chaoyi, Chen, Qian, Sun, Xinghuai, Chen, Yuhong, Tian, Guohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291510/
https://www.ncbi.nlm.nih.gov/pubmed/35860740
http://dx.doi.org/10.3389/fmed.2022.912103