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,...

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Detalles Bibliográficos
Autores principales: Sabella‐Jiménez, Vanessa, Otero‐Herrera, Carlos, Silvera‐Redondo, Carlos, Garavito‐Galofre, Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
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

Internet

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

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