Abstract|Topic: 7 - Neuromuscular disorders| Volume 333, SUPPLEMENT 1, e430, October 15, 2013

Clinical and genetic characteristics of chronic progressive external ophthalmoplegia (CPEO)

      Background: Chronic progressive external ophthalmoplegia (CPEO) is a prominent clinical manifestation in mitochondrial disease, and can be caused by single or multiple deletions in mitochondrial DNA (mtDNA), as well as by mtDNA point mutations. Single deletions are usually sporadic, whilst multiple deletions arise due to mutations in nuclear genes. Here, we examine the distribution of the various mutations in a cohort of 290 patients with CPEO, and compare the clinical features exhibited by the various groups.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Journal of the Neurological Sciences
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect