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Molecular Diagnosis of Calpainopathies

Methods Used for Detection of Mutations in CAPN3 Gene Implicated in Limb-Girdle Muscular Dystrophy Type 2A

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Muscular Dystrophy

Part of the book series: Methods in Molecular Medicine ((MIMM,volume 43))

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Abstract

Limb-girdle muscular dystrophy 9LGMD) type 2A (LGMD2A; MIM253600) is an autosomal recessive disorder belonging to the group of progressive MDs. LGMD2A is characterized by symmetrical atrophy of the pelvic, scapular, and trunk muscles, elevated serum creatine kinase and a necrotic-regeneration pattern on muscular biopsies (1– 2). The study of these biopsies show that the integrity of the dystrophin-associated complex is preserved in these patients, because immunohistochemical staining for dystrophin, merosin, or the various sarcoglycan (SG) proteins is normal (2). Other than that, there are no specific diagnostic criteria, which explains why, despite having been properly described over a century ago (3), this field has generated much heated controversy, but this clinical entity remained difficult to recognize.

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Author information

Authors and Affiliations

  1. Genethon, Evry, France

    Isabelle Richard & Jacques Beckmann

Authors
  1. Isabelle Richard
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  2. Jacques Beckmann
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Editors and Affiliations

  1. Department of Human Genetics, School of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK

    Katharine M.D. Bushby

  2. Department of Neurobiology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK

    Louise V.B. Anderson

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© 2001 Humana Press Inc., Totowa, NJ

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Richard, I., Beckmann, J. (2001). Molecular Diagnosis of Calpainopathies. In: Bushby, K.M., Anderson, L.V. (eds) Muscular Dystrophy. Methods in Molecular Medicine, vol 43. Springer, Totowa, NJ. https://doi.org/10.1385/1-59259-138-8:273

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  • DOI: https://doi.org/10.1385/1-59259-138-8:273

  • Publisher Name: Springer, Totowa, NJ

  • Print ISBN: 978-0-89603-695-6

  • Online ISBN: 978-1-59259-138-1

  • eBook Packages: Springer Protocols

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