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CONGENITAL MYOPATHIES

A. Malandrini, S. Gambelli, A. Orrico, L. Galli, C. Gaudiano, G. Berti, G. Serni, C. Salvadori, E. Zicari, MT. Dotti, V. Sorrentino, A. Federico
  • A. Malandrini
    UO Neurometabolic Deseases, Department of Neurological Sciences and Behaviour, University of Siena, Italy | info@pagepress.org
  • 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

Abstract

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.

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Submitted: 2012-01-10 10:01:20
Published: 2012-01-10 10:39:24
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Copyright (c) 2012 A. Malandrini, S. Gambelli, A. Orrico, L. Galli, C. Gaudiano, G. Berti, G. Serni, C. Salvadori, E. Zicari, MT. Dotti, V. Sorrentino, A. Federico

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