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Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia
BACKGROUND: Kearns–Sayre Syndrome (KSS) and Pearson Marrow‐Pancreas Syndrome (PMPS) are among the classic phenotypes caused by mitochondrial DNA (mtDNA) deletions. KSS is a rare mitochondrial disease defined by a classic triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy,...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667363/ https://www.ncbi.nlm.nih.gov/pubmed/33030289 http://dx.doi.org/10.1002/mgg3.1509 |