ArticleCureus2025
Expanding the Genetic and Phenotypic Spectrum of Kearns-Sayre Syndrome: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed.
- Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.Frontiers in medicine · 2025Article
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Abstract
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disorder characterized by progressive bilateral ptosis and symmetric ophthalmoparesis. When CPEO is associated with pigmentary retinopathy, cardiac conduction defects, endocrine abnormalities, muscle weakness, and other neurological impairments, it defines Kearns-Sayre syndrome (KSS), most commonly caused by a single large-scale mitochondrial DNA (mtDNA) deletion. We report a case of a 34-year-old man with a three-year history of progressive bilateral ptosis. A muscle biopsy from the left vastus lateralis revealed cytochrome c oxidase-deficient fibers (COX-negative). mtDNA analysis revealed a novel single large-scale deletion detected in muscle tissue. This deletion has not been previously reported in the scientific literature and led to a diagnosis of KSS. Additionally, cerebrospinal fluid analysis revealed the presence of oligoclonal bands, a finding not previously described in KSS. The deleted mtDNA region includes
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