The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.

ABSTRACT:

Background

Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy.

Objective

The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and clinical manifestations in Chinese patients with single large-scale mtDNA deletion presenting with PEO.

Methods

This is a retrospective single-center study. Patients with PEO who had a single large deletion in mitochondrial DNA were included in this study. The associations were analyzed between mtDNA deletion patterns, myopathological changes, and clinical characteristics.

Results

In total, 155 patients with mitochondrial PEO carrying single large-scale mtDNA mutations were enrolled, including 137 chronic progressive external

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC10767604 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature