Cargando…
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: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
|
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 |