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 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
Right arrow Citation Map
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 HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Raffelsberger, T.
Right arrow Articles by Bittner, R. E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Raffelsberger, T.
Right arrow Articles by Bittner, R. E.
Related Collections
Right arrow Ocular motility
Right arrow Eyelids
Right arrow Mitochondrial disorders
Neurology 2001;57:2298-2301
© 2001 American Academy of Neurology
Brief Communications

CPEO associated with a single nucleotide deletion in the mitochondrial tRNATyr gene

Thomas Raffelsberger, MD, Walter Rossmanith, PhD, Helga Thaller-Antlanger, MD and Reginald E. Bittner, MD

From the Neuromuscular Research Department (Drs. Raffelsberger, Rossmanith, and Bittner), Institute of Anatomy, University of Vienna, and the Landesklinik für Augenheilkunde und Optometrie (Dr. Thaller-Antlanger), Sonderauftrag Augenmotilität, Salzburg, Austria.

Address correspondence and reprint requests to Dr. Reginald E. Bittner, Neuromuscular Research Department, Institute of Anatomy, University of Vienna, Währinger Straße 13, 1090 Wien, Austria; e-mail: reginald.bittner@ univie.ac.at

In the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide ({Delta}T5885) in the mitochondrial tRNA tyrosine gene (tRNATyr) was found. The mutation was associated with the mitochondrial phenotype of individual muscle fibers, suggesting a causal association of {Delta}T5885 with the mitochondrial disease phenotype. The microdeletion was absent from the patient’s and her relatives’ blood, indicating a spontaneous somatic origin.




This article has been cited by other articles:


Home page
 RNAHome page
L. Bonnefond, C. Florentz, R. Giege, and J. Rudinger-Thirion
Decreased aminoacylation in pathology-related mutants of mitochondrial tRNATyr is associated with structural perturbations in tRNA architecture
RNA, April 1, 2008; 14(4): 641 - 648.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
A. Meulemans, B. De Paepe, J. De Bleecker, J. Smet, W. Lissens, R. Van Coster, L. De Meirleir, and S. Seneca
Two Novel Mitochondrial DNA Mutations in Muscle Tissue of a Patient With Limb-Girdle Myopathy
Arch Neurol, September 1, 2007; 64(9): 1339 - 1343.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2001 by AAN Enterprises, Inc.