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. 2004 Nov 15;131(1):67-70.
doi: 10.1002/ajmg.a.30289.

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

Rodney K Beals  1 , Richard G Weleber
Affiliations

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

Rodney K Beals et al. Am J Med Genet A. .

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.

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