Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for more information

Click here to sign up for SAGE Journal Email Alerts today!

Sign In to gain access to subscriptions and/or personal tools.
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
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 Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Scaglia, F.
Right arrow Articles by Vladutiu, G. D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Scaglia, F.
Right arrow Articles by Vladutiu, G. D.
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

Mitochondrial DNA Depletion Associated With Partial Complex II and IV Deficiencies and 3-Methylglutaconic Aciduria

Fernando Scaglia, MD

Department of Molecular and Human Genetics

V. Reid Sutton, MD

Department of Molecular and Human Genetics

Olaf A.F Bodamer, MD, PhD

Department of Molecular and Human Genetics

Hannes Vogel, MD

Department of Pathology and Pediatrics

Stuart K. Shapira, MD

Departments of Molecular and Human Genetics and Pediatrics Baylor College of Medicine Houston, Texas

Robert K. Naviaux, MD

The Mitochondrial and Metabolic Disease Center University of California-San Diego School of Medicine San Diego, California

Georgirene D. Vladutiu, PhD

Department of Pediatrics University of Buffalo School of Medicine and Biomedical Sciences The Children's Hospital of Buffalo Buffalo, New York

We report a patient with mitochondrial DNA depletion, partial complex II and IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency has not been previously observed in mitochondrial DNA depletion syndromes. The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion. (J Child Neurol 2001;16:136-138).

Journal of Child Neurology, Vol. 16, No. 2, 136-138 (2001)
DOI: 10.1177/088307380101600214
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 BrainHome page
S. B. Wortmann, R. J. T. Rodenburg, A. Jonckheere, M. C. de Vries, M. Huizing, K. Heldt, L. P. van den Heuvel, U. Wendel, L. A. Kluijtmans, U. F. Engelke, et al.
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Brain, January 1, 2009; 132(1): 136 - 146.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Mancuso, L. Salviati, S. Sacconi, D. Otaegui, P. Camano, A. Marina, S. Bacman, C.T. Moraes, J.R. Carlo, M. Garcia, et al.
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
Neurology, October 22, 2002; 59(8): 1197 - 1202.
[Abstract] [Full Text] [PDF]

Home page
 ANN INTERN MEDHome page
P. S. Phillips, R. H. Haas, S. Bannykh, S. Hathaway, N. L. Gray, B. J. Kimura, G. D. Vladutiu, J. D.F. England, and the Scripps Mercy Clinical Research Center*
Statin-Associated Myopathy with Normal Creatine Kinase Levels
Ann Intern Med, October 1, 2002; 137(7): 581 - 585.
[Abstract] [Full Text] [PDF]