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  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Absence of Linkage to the 4q35 FSHD Locus

Rabi Tawil, MD; Gary J. Myers, MD; Barbara Weiffenbach, PhD; Robert C. Griggs, MD

Arch Neurol. 1995;52(11):1069-1072.

Abstract
Objective
To investigate whether two forms of the scapuloperoneal syndrome result from genetic defects allelic to facioscapulohumeral dystrophy (FSHD).

Design
Two kindreds with scapuloperoneal syndromes underwent clinical, histologic, and electrophysiologic evaluation followed by genetic evaluation with probes closely linked to FSHD.

Results
Although the proband in each kindred had facial, scapular stabilizer, and humeral weakness, raising the possibility of FSHD, evaluation of multiple other affected family members showed patterns of involvement that were clinically distinct from typical FSHD. In addition, DNA studies showed no linkage to the 4q35 FSHD locus in either kindred.

Conclusion
We conclude that these two forms of the scapuloperoneal syndrome are genetically distinct from FSHD.

Author Affiliations
From the Departments of Neurology (Drs Tawil, Myers, and Griggs) and Pediatrics (Dr Myers), School of Medicine and Dentistry, University of Rochester (NY); the Collaborative Research Division, Genome Therapeutic Corp, Waltham, Mass (Dr Weiffenbach); and the Wayne C. Gorell, Jr, Molecular Biology Laboratory, Rochester (Drs Tawil, Myers, and Griggs).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy
Felice et al.
Neurology 2000;54:1927-1931.
ABSTRACT | FULL TEXT