Longstanding Drooping Eyelids

  • Robert D. S. Pitceathly
  • Shamima Rahman
  • Michael G. Hanna
Chapter

Abstract

A 64 year old woman presenting with ptosis, ophthalmoparesis, fatigue and exercise intolerance with disease onset in the fourth decade and no family history of neurological disease. Muscle biopsy revealed cytochrome-c oxidase deficient and ragged red fibres and Southern blot analysis confirmed multiple mitochondrial DNA deletions due to compound heterozygous POLG mutations.

Keywords

Mitochondrial disease POLG CPEO 

Reference

  1. Saneto RP, Naviaux RK. Polymerase gamma disease through the ages. Dev Disabil Res Rev. 2010;16(2):163–74.CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  • Robert D. S. Pitceathly
    • 1
  • Shamima Rahman
    • 2
  • Michael G. Hanna
    • 1
  1. 1.MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and NeurosurgeryLondonUK
  2. 2.UCL Institute of Child HealthLondonUK

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