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A 28-Year-Old Woman with Proximal Limb Weakness and Scapular Winging

  • Rahul Abhyankar
  • Chunyu Cai
  • Jaya R. TrivediEmail author
Chapter

Abstract

Limb girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive condition characterized by progressive proximal weakness in adolescents and young adults. This condition is caused by mutation in the CAPN3 gene that encodes for calpain-3, a muscle-specific protein that is involved in sarcomere remodeling. Diagnosis is made by genetic testing and can be supplemented by muscle biopsy. Treatment is supportive.

Keywords

LGMD2A Autosomal recessive Limb girdle muscular dystrophy Calpainopathy CAPN3 

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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Neurology & NeurotherapeuticsUniversity of Texas Southwestern Medical CenterDallasUSA
  2. 2.Department of PathologyUniversity of Texas Southwestern Medical CenterDallasUSA

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