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:	Artigo
Language:	Inglês
Published:	Wiley 2020-11-01
Series:	Molecular Genetics & Genomic Medicine
Online Access:	https://doi.org/10.1002/mgg3.1509
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