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