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Article

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.

Neurosciences (Riyadh, Saudi Arabia) - 1 Apr 2022

Zhao Huan, Shi Min, Yang Fang, Yang Xuhong

Abstract excerpt

Kearns-Sayre Syndrome (KSS) is a subtype of chronic progressive external ophthalmoplegia (CPEO). In this case, A 21-year-old man diagnosed with KSS, and presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia, diffuse depigmentation of the retinal pigment epithelium, and cerebellar ataxia, with a cerebrospinal fluid protein of 254 mg/dL, was reported. Genetic screening revealed a...

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Identifiers

PMID: 35477912
DOI: 10.17712/nsj.2022.2.20210123
PMCID: PMC9257918

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