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. 49 No. 9, September 1992 TABLE OF CONTENTS
  Archives
  •  Online Features
  ARTICLE
 This Article
 • Reply to article
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citing articles on HighWire
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal

A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features

R. DeLong and T. Siddique
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.

We describe a large New England kindred bearing an autosomal dominant syndrome of neurogenic amyotrophy with variable expression. Features include congenital absence of muscles, progressive scapuloperoneal atrophy, laryngeal palsy, and progressive distal weakness and atrophy. The pattern of expression and progression varies in different branches of the family. Males are more severely affected than females. Disease expression is more severe and progressive in succeeding (third and fourth) generations. This striking increase in severity and progressivity in succeeding generations may have genetic implications. The syndrome most resembles the Stark-Kaeser chronic scapuloperoneal amyotrophy, but is considered a distinct entity.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Wang et al.
J Child Neurol 2007;22:1027-1049.
ABSTRACT  

The gene for HMSN2C maps to 12q23-24: A region of neuromuscular disorders
Klein et al.
Neurology 2003;60:1151-1156.
ABSTRACT | FULL TEXT  

Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness
McEntagart et al.
J. Neurol. Neurosurg. Psychiatry 2002;73:762-765.
ABSTRACT | FULL TEXT  

Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist
Rowland
J Child Neurol 1998;13:122-132.
ABSTRACT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 1992 American Medical Association. All Rights Reserved.