Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report

RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few...

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Detalles Bibliográficos
Autores principales: Lv, Zhan-Yun, Xu, Xue-Mei, Cao, Xiao-Fu, Wang, Qian, Sun, Da-Fang, Tian, Wen-Jing, Yang, Yan, Wang, Yu-Zhong, Hao, Yan-Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728770/
https://www.ncbi.nlm.nih.gov/pubmed/29310369
http://dx.doi.org/10.1097/MD.0000000000008869

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728770/
https://www.ncbi.nlm.nih.gov/pubmed/29310369
http://dx.doi.org/10.1097/MD.0000000000008869

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