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Article

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

American journal of medical genetics. Part A - 15 Nov 2004

Beals Rodney K, Weleber Richard G

Abstract excerpt

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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Identifiers

PMID: 15389706
DOI: 10.1002/ajmg.a.30289

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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