Article

Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS)

2024-08-23

Abstract excerpt

<h4>Introduction: </h4> Single large-scale mtDNA deletions (SLSMD) result in Single Large Scale Deletion Syndromes (SLSMDS). SLSMDS presentations have classically been recognized to encompass at least three distinct clinical phenotypes, Pearson Syndrome (PS), Kearns-Sayre Syndrome (KSS), and Chronic Progressive Ophthalmoplegia (CPEO). Methods Facilitated review of electronic medical records, manual charts, and RED...

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Literature Corpus work: f6231050-bb04-5173-af76-90def7d7db55
DOI: 10.1101/2024.08.23.24312119

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