Articles
Vol. 1 No. 1 (2009)
https://doi.org/10.4081/jsas.2009.333

CONGENITAL MYOPATHIES

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Received: 10 January 2012
Accepted: 10 January 2012
Published: 10 January 2012
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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.

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CONGENITAL MYOPATHIES. (2012). Journal of the Siena Academy of Sciences, 1(1), 36-39. https://doi.org/10.4081/jsas.2009.333