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Article

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

Medicine - 1 Dec 2017

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

Abstract excerpt

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 individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and...

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Identifiers

PMID: 29310369
DOI: 10.1097/MD.0000000000008869
PMCID: PMC5728770

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Source receipt: pubmed, retrieved 7 Sept 2026.

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