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

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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Bibliographic Details
Main Authors: Vanessa Sabella‐Jiménez, Carlos Otero‐Herrera, Carlos Silvera‐Redondo, Pilar Garavito‐Galofre
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Molecular Genetics & Genomic Medicine
Online Access:https://doi.org/10.1002/mgg3.1509

Internet

https://doi.org/10.1002/mgg3.1509

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