Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

Abstract excerpt

PURPOSE: Single large-scale mtDNA deletions (SLSMD) result in single large-scale deletion syndromes (SLSMDS). SLSMDS presentations have classically been recognized to encompass at least 3 distinct clinical phenotypes: Pearson syndrome (PS), Kearns-Sayre syndrome (KSS), and chronic progressive ophthalmoplegia. METHODS: A facilitated review of electronic medical records, manual charts, and Research Electronic Data...

Topics

• Humans
• Female
• Male
• Mitochondrial Diseases
• DNA, Mitochondrial