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Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?

Neurological Sciences volume 27, pages 134–137 (2006)Cite this article

Abstract

Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles and caused by changes in the CAPN3 gene. Involvement of tissues other than the skeletal muscle has not been reported so far. Here we describe the unusual association of LGMD2A and idiopathic generalised epilepsy in a 14-year-old girl.

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Affiliations

  1. Neurophysiopathology Unit, Hospital Lotti, Via Roma 180, I-56025, Pontedera, Italy

    C. Pizzanelli, M. Mancuso & R. Galli

  2. Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy

    M. Mancuso, A. Choub, G. Siciliano & L. Murri

  3. Department of Neuroscience, University of Padova, Italy

    M. Fanin & A. C. Nascimbeni

Authors
  1. C. Pizzanelli
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  2. M. Mancuso
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  3. R. Galli
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  4. A. Choub
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  5. M. Fanin
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  6. A. C. Nascimbeni
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  7. G. Siciliano
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  8. L. Murri
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Corresponding author

Correspondence to M. Mancuso.

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Cite this article

Pizzanelli, C., Mancuso, M., Galli, R. et al. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?. Neurol Sci 27, 134–137 (2006). https://doi.org/10.1007/s10072-006-0615-x

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  • DOI: https://doi.org/10.1007/s10072-006-0615-x

Key words

  • Epilepsy
  • LGMD
  • Calpain-3