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Mutation Detection in β- and γ-Sarcoglycan (LGMD2E and LGMD2C)

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Muscular Dystrophy

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

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Abstract

Direct mutation analysis in the genes for β- and γ- sarcoglycan (SG) is performed in a patient in whom a type of autosomal recessive limb-girdle muscular dystrophy (LGMD) affecting the SG complex is suspected. Ideally, this suspicion should have been substantiated by analysis of the SG complex using immunohistochemical (IHC) methods and/or Westernblot analysis of a muscle biopsy specimen from the patient before proceeding to the actual mutation analysis (see Chapter 15). In addition, the IHC results may directly suggest the primary SG gene involved (see subheading), thus potentially streamlining the search for the underlying mutation, which otherwise may have to cover all four currently known SG genes.

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Author information

Authors and Affiliations

  1. Department of Pediatrical Cardiology, Center for Child Medicine, Georg-August-Universität Göttingen, Göttingen, Germany

    Carsten G. Bönnemann

  2. Division of Genetics, Departments of Neurology, The Childrens’ Hospital, Boston, MA

    Louis M. Kunkel

Authors
  1. Carsten G. Bönnemann
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  2. Louis M. Kunkel
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Editor information

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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Bönnemann, C.G., Kunkel, L.M. (2001). Mutation Detection in β- and γ-Sarcoglycan (LGMD2E and LGMD2C). In: Bushby, K.M., Anderson, L.V. (eds) Muscular Dystrophy. Methods in Molecular Medicine, vol 43. Springer, Totowa, NJ. https://doi.org/10.1385/1-59259-138-8:227

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  • DOI: https://doi.org/10.1385/1-59259-138-8:227

  • 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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