PPP2R5D-Related Intellectual Disability as a Novel Cause of Amyoplasia
- Brian Wahlig,
- Kiley Poppino,
- Carol Wise,
- Steven Sparagana
Brian Wahlig
University of Texas Southwestern Medical School
Corresponding Author:wahligb@gmail.com
Author ProfileSteven Sparagana
University of Texas Southwestern Department of Neurology and Neurotherapeutics
Author ProfileAbstract
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.
