Submitted: 10 January 2012
Accepted: 10 January 2012
Published: 10 January 2012
Abstract Views: 737
PDF: 1123
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.


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.



PlumX Metrics


Download data is not yet available.


How to Cite

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.