CONGENITAL MYOPATHIES


https://doi.org/10.4081/jsas.2009.333
Vol. 1 No. 1 (2009)
Submitted: 10 January 2012
Accepted: 10 January 2012
Published: 10 January 2012
Abstract Views: 726
PDF: 1117
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Authors

  • A. Malandrini
    info@pagepress.org
    UO Neurometabolic Deseases, Department of Neurological Sciences and Behaviour, University of Siena, Italy.
  • S. Gambelli UO Neurometabolic Deseases, Department of Neurological Sciences and Behaviour, University of Siena, Italy.
  • A. Orrico UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • L. Galli UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • C. Gaudiano UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • G. Berti UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • G. Serni UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • C. Salvadori UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • E. Zicari UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • MT. Dotti UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
  • V. Sorrentino UO Molecolar Medicine, Department of Oncology; Department of Neurological Sciences, University of Siena, Italy.
  • A. Federico UO Molecolar Medicine, Department of Oncology, University of Siena, Italy.
Congenital myopathies are a heterogeneous group of disorders characterized by muscle weakness and typical histopathological changes at muscle biopsy. In spite of recent advances on molecular genetics, their classification is still based on morphological criteria. Phenotypical and genetic heterogeneicity are common findings. The clinical symptoms usually appear in infancy, but adult-onset cases have been described. In this review, we focus on the current knowledges on congenital myopathies and we report our experience on adult-onset cases.

Malandrini, A., Gambelli, S., Orrico, A., Galli, L., Gaudiano, C., Berti, G., Serni, G., Salvadori, C., Zicari, E., Dotti, M., Sorrentino, V., & Federico, A. (2012). CONGENITAL MYOPATHIES. Journal of the Siena Academy of Sciences, 1(1), 36–39. https://doi.org/10.4081/jsas.2009.333

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