You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT ARCHIVES
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 48 No. 3, March 1991 TABLE OF CONTENTS
  Archives
  •  Online Features
  OBSERVATIONS
 This Article
 •References
 •Full text PDF
 • Reply to article
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citation map
 •Citing articles on HighWire
 •Citing articles on Web of Science (27)
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Social Bookmarking
  Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit Add to Technorati Add to Twitter What's this?

Successful Treatment of Pure Myopathy, Associated With Complex I Deficiency, With Riboflavin and Carnitine

Pieter L. J. A. Bernsen, MD; Fons J. M. Gabreëls, MD, PhD; Wim Ruitenbeek, PhD; Rob C. A. Sengers, MD, PhD; Ad M. Stadhouders, MD, PhD; Willie O. Renier, MD, PhD

Arch Neurol. 1991;48(3):334-338.


Abstract

• We describe a 6-year-old boy who presented with progressive muscle weakness. Additional investigations revealed the existence of a myopathy and a pure motor neuropathy. Biochemical studies in muscle tissue showed a defect of NADH dehydrogenase (complex I). The patient dramatically improved on treatment with riboflavin and L-carnitine. Seven months after the start of the treatment, complex I activity was determined again and appeared to be normalized. Normalization of the enzymatic defect at this level has not been reported before. We provide a survey of nine patients with pure myopathy, associated with complex I deficiency and onset of symptoms in childhood.



Author Affiliations

From the Institute of Neurology, Department of Child Neurology (Drs Bernsen, Gabreëls, and Renier), the Institute of Pediatrics (Drs Ruitenbeek and Sengers), and the Institute of Cell Biology (Dr Stadhouders), St Radboud University Hospital, Nijmegen, the Netherlands.


Footnotes

Accepted for publication June 29, 1990.

Presented in part at the 14th World Congress of Neurology, New Delhi, India, October 24, 1989.

Reprints not available.



Add to CiteULike CiteULike   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

Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease
Scaglia et al.
Pediatrics 2004;114:925-931.
ABSTRACT | FULL TEXT  

High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms
Ames et al.
Am. J. Clin. Nutr. 2002;75:616-658.
ABSTRACT | FULL TEXT  

Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
Kirby et al.
Neurology 1999;52:1255-1255.
ABSTRACT | FULL TEXT  

Mitochondrial Myopathy or Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)?
Krendel
Arch Neurol 1992;49:1111-1111.
ABSTRACT  

Mitochondrial Myopathy or Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)?-Reply
Bernsen et al.
Arch Neurol 1992;49:1111-1111.
ABSTRACT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 1991 American Medical Association. All Rights Reserved.