Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Data Supplement
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Pulkes, T.
Right arrow Articles by Hanna, M. G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Pulkes, T.
Right arrow Articles by Hanna, M. G.
Related Collections
Right arrow Ocular motility
Right arrow All Genetics
Right arrow Mitochondrial disorders
NEUROLOGY 2003;61:1144-1147
© 2003 American Academy of Neurology
Brief Communications

Classical mitochondrial phenotypes without mtDNA mutations

The possible role of nuclear genes

Teeratorn Pulkes, MD, Danae Liolitsa, PhD, Isabelle P. Nelson, PhD and Michael G. Hanna, MD

From the Division of Neurology (Dr. Pulkes), Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; and Department of Molecular Neuroscience (Drs. Liolitsa, Nelson, and Hanna) and Centre of Neuromuscular Disease (Dr. Hanna), Institute of Neurology, University College London, England.

Address correspondence and reprint requests to Dr. M.G. Hanna, Centre of Neuromuscular Disease and Department of Molecular Neurosciences, Division of Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK; e-mail: m.hanna{at}ion.ucl.ac.uk

The authors analyzed the total mitochondrial (mt) genome in 15 patients with classic mitochondrial phenotypes. Novel somatic mtDNA mutations in two patients with chronic progressive external ophthalmoplegia were identified. Total automated mtDNA genome analysis did not reveal other pathogenic mtDNA mutations. The authors conclude that classic mitochondrial phenotypes, including those with adult onset, may occur in the absence of mtDNA mutations. Nuclear gene mutations may be the cause.

Received February 10, 2003. Accepted in final form June 16, 2003.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by AAN Enterprises, Inc.