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Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia.

Authors :
Beals RK
Weleber RG
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2004 Nov 15; Vol. 131 (1), pp. 67-70.
Publication Year :
2004

Abstract

A four-generation family with distal arthrogryposis 5 is described. All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality.<br /> ((c) 2004 Wiley-Liss, Inc.)

Details

Language :
English
ISSN :
1552-4825
Volume :
131
Issue :
1
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
15389706
Full Text :
https://doi.org/10.1002/ajmg.a.30289