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PPP2R5D-Related Intellectual Disability as a Novel Cause of Amyoplasia
  • +1
  • Brian Wahlig,
  • Kiley Poppino,
  • Carol Wise,
  • Steven Sparagana
Brian Wahlig
University of Texas Southwestern Medical School
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Kiley Poppino
Texas Scottish Rite Hospital for Children
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Carol Wise
Texas Scottish Rite Hospital for Children
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Steven Sparagana
University of Texas Southwestern Department of Neurology and Neurotherapeutics
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Abstract

Amyoplasia is the most common form of arthrogryposis, a congenital condition characterized by multiple joint contractures. Current literature on amyoplasia suggests it is a sporadic condition without a genetic basis. We describe a patient with the musculoskeletal characteristics of amyoplasia and an underlying rare and possibly causal genetic variant.

Peer review status:UNDER REVIEW

27 Aug 2020Submitted to Clinical Case Reports
28 Aug 2020Assigned to Editor
28 Aug 2020Submission Checks Completed
11 Sep 2020Reviewer(s) Assigned