Open AccessCONGENITAL MYOPATHIES
Author(s) -
Alessandro Malandrini,
Simona Gambelli,
Alfredo Orrico,
L. Galli,
Carmen Gaudiano,
Gianna Berti,
Giovanni Serni,
Claudio Salvadori,
Enza Zicari,
M. T. Dotti,
Vincenzo Sorrentino,
A. Federico
Publication year - 2012
Publication title -
journal of the siena academy of sciences
Language(s) - English
Resource type - Journals
eISSN - 2279-882X
pISSN - 2279-8811
DOI - 10.4081/jsas.2009.36
Subject(s) - muscle biopsy , medicine , weakness , pediatrics , muscle disorder , pathology , biopsy , anatomy
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