Literature DB >> 15389706

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

Rodney K Beals1, Richard G Weleber.   

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. (c) 2004 Wiley-Liss, Inc.

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Year:  2004        PMID： 15389706     DOI： 10.1002/ajmg.a.30289

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  2 in total

1.  Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.

Authors:  Zoran S Gucev; Nada Pop-Jordanova; Gordana Dumalovska; Orhideja Stomnaroska; Gorgji Zafirovski; Velibor B Tasic
Journal:  Cases J       Date:  2009-12-30

2.  Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

Authors:  Bertrand Coste; Gunnar Houge; Michael F Murray; Nathan Stitziel; Michael Bandell; Monica A Giovanni; Anthony Philippakis; Alexander Hoischen; Gunnar Riemer; Unni Steen; Vidar Martin Steen; Jayanti Mathur; James Cox; Matthew Lebo; Heidi Rehm; Scott T Weiss; John N Wood; Richard L Maas; Shamil R Sunyaev; Ardem Patapoutian
Journal:  Proc Natl Acad Sci U S A       Date:  2013-03-04       Impact factor: 11.205
  2 in total

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