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
ABSTRACT 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 reti...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wiley
2020-11-01
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| Serie: | Molecular Genetics & Genomic Medicine |
| Accesso online: | https://doi.org/10.1002/mgg3.1509 |
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