Document Detail

Are mitochondrial DNA deletions causative in chronic progressive external ophthalmoplegia patients?
MedLine Citation:
PMID:  18638949     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Twenty-one patients with long standing unexplained ptosis (3), chronic progressive external ophthalmoplegia (CPEO, 16) or Kearns-Sayre syndrome (KSS, 2) were studied for the presence of mitochondrial DNA (mtDNA) deletions and the major disease-associated mtDNA point mutations with the aim of correlating mitochondrial genetic abnormalities with pathogenesis in these patients. Only 52% were found to have a deletion; of these, 82% harboured the 'common deletion'. Two of 2 KSS patients and 9 of 16 CPEO patients were deletion positive. None of the 3 patients with bilateral ptosis only had a deletion. Of those patients with ragged red fibres (RRF) on histology, 69% had a deletion. No disease associated mtDNA point mutation was observed with the exception of the nucleotide (nt) 11084 A-G mutation associated with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) in a patient also harbouring the common deletion. The role of deletions in CPEO patients is discussed.
M J Jean-Francois; S Collins; N Kotsimbos; X Dennett; E Byrne
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia     Volume:  4     ISSN:  0967-5868     ISO Abbreviation:  J Clin Neurosci     Publication Date:  1997 Apr 
Date Detail:
Created Date:  2008-07-21     Completed Date:  2010-02-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433352     Medline TA:  J Clin Neurosci     Country:  Scotland    
Other Details:
Languages:  eng     Pagination:  163-8     Citation Subset:  -    
Clinical Neuroscience Centre, St Vincent's Hospital, Fitzroy, Victoria 3065, Australia.
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