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

ConclusionsOur findings are compatible with the phenotypic and genetic presentation of PMPS and KSS. We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with PMPS, who later evolved to KSS.

Source: Molecular Genetics & Genomic Medicine - October 8, 2020 Category: Genetics & Stem Cells Authors: Vanessa Sabella ‐Jiménez, Carlos Otero‐Herrera, Carlos Silvera‐Redondo, Pilar Garavito‐Galofre Tags: CLINICAL REPORT Source Type: research