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..and the Other Common Cause

  • Jasper M. Morrow
  • Janice L. Holton
  • Chris Turner
Chapter

Abstract

A 22 year old is presented with Achilles tendon tightening from a young age and progressive proximal weakness over the past 4 years. Creatine kinase was markedly elevated at 5196 (<140) with electromyography showing myopathic features. Immunostaining of her muscle biopsy showed significantly reduced immunolabelling for Calpain-3 and undetectable Calpain-3 bands on immunoblotting. Compound heterozygous mutations in Calpain-3 gene were detected.

Keywords

Limb girdle muscular dystrophy Calpainopathy, muscular dystrophy 

Reference

  1. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol. 2009;9(6):314–23.CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  • Jasper M. Morrow
    • 1
  • Janice L. Holton
    • 2
  • Chris Turner
    • 1
  1. 1.MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and NeurosurgeryLondonUK
  2. 2.Division of NeuropathologyNational Hospital for Neurology and NeurosurgeryLondonUK

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