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Ophthalmoplegia, pigmentary retinopathy, and abnormal cardiac conduction: A rare case of Kearns-Sayre syndrome
Kearns-Sayre syndrome (KSS) is one of the three classic and overlapping phenotypes that result from simplex mitochondrial DNA (mtDNA) deletion syndromes. The rarity of the syndrome has led to a paucity of reported cases in the literature. We present the case of a young female who presented with droo...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945776/ https://www.ncbi.nlm.nih.gov/pubmed/36845279 http://dx.doi.org/10.1016/j.ensci.2023.100448 |