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A 25-Year-Old Woman with Droopy Eyelids and Double Vision

  • Lan ZhouEmail author
  • Chunyu Cai
Chapter
  • 498 Downloads

Abstract

Mitochondrial myopathy is caused by mutations in nuclear or mitochondrial genes with resultant defects in the mitochondrial oxidative phosphorylation function. Patients with mitochondrial myopathy usually present with chronic progressive bilateral eyelid ptosis and ophthalmoplegia. They may also manifest fixed proximal limb weakness, cardiac conduction block, cardiomyopathy, hearing loss, retinopathy, and diabetes mellitus, among others. Here we present a case of mitochondrial myopathy with clinical, pathological, and genetic features consistent with Kearns-Sayre syndrome.

Keywords

Mitochondrial myopathy Mitochondrial disease Kearns-Sayre syndrome Muscle biopsy Ragged red fibers COX-deficient fibers Paracrystalline inclusion 

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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Departments of Neurology and PathologyBoston University Medical CenterBostonUSA
  2. 2.Department of PathologyUniversity of Texas Southwestern Medical CenterDallasUSA

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