A new congenital neuromuscular disease with trilaminar muscle fibers
Citation Manager Formats
Make Comment
See Comments
Abstract
An infant was born with marked rigidity, a paucity of spontaneous movements, and increased serum creatine phosphokinase activity. Electromyogram was normal. A muscle biopsy, taken at the age of 7 weeks, contained numerous fibers composed of three concentric zones, warranting the designation “trilaminar fibers.” Electronmicroscopy showed the innermost zone contained a densely packed collection of mitochondria, glycogen, electron opaque material, and single filaments. The middle zone consisted of myofibrils with Z-band smearing. The outer zone resembled a sarcoplasmic mass. Extrajunctional acetylcholine receptor (AChR) was present in the trilaminar fibers between the middle and outer zones. The increased muscle tone and extrajunctional AChR suggest an altered neural influence, but the markedly increased creatine phosphokinase activity is more characteristic of muscle damage. Precise definition of the nature of the defect awaits further study.
- © 1978 by the American Academy of Neurology
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
For assistance, please contact:
AAN Members (800) 879-1960 or (612) 928-6000 (International)
Non-AAN Member subscribers (800) 638-3030 or (301) 223-2300 option 3, select 1 (international)
Sign Up
Information on how to subscribe to Neurology and Neurology: Clinical Practice can be found here
Purchase
Individual access to articles is available through the Add to Cart option on the article page. Access for 1 day (from the computer you are currently using) is US$ 39.00. Pay-per-view content is for the use of the payee only, and content may not be further distributed by print or electronic means. The payee may view, download, and/or print the article for his/her personal, scholarly, research, and educational use. Distributing copies (electronic or otherwise) of the article is not allowed.
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Dr. Dennis Bourdette and Dr. Lindsey Wooliscroft
► Watch
Related Articles
- No related articles found.