Congenital muscular dystrophies are a highly heterogeneous group of conditions. In the last few years the identification of several new genes encoding for both glycosyltransferases and structural proteins has expanded the spectrum of the known forms. New classifications based on combined clinical, genetic and pathological data include all the recently discovered genes and allow an easier identification of the different forms and insight on pathogenetic mechanisms. The aim of this review is to discuss the most recent advances in this field, providing a conceptual framework to help the understanding of the responsible mechanisms and, when available, an update on the therapeutic perspectives.ANN NEUROL 2012;72:9-17.
Mercuri, E. M., Muntoni, F., The ever-expanding spectrum of congenital muscular dystrophies, <<ANNALS OF NEUROLOGY>>, 2010; 72 (1): 9-17. [doi:10.1002/ana.23548] [http://hdl.handle.net/10807/30792]
The ever-expanding spectrum of congenital muscular dystrophies
Mercuri, Eugenio Maria;
2012
Abstract
Congenital muscular dystrophies are a highly heterogeneous group of conditions. In the last few years the identification of several new genes encoding for both glycosyltransferases and structural proteins has expanded the spectrum of the known forms. New classifications based on combined clinical, genetic and pathological data include all the recently discovered genes and allow an easier identification of the different forms and insight on pathogenetic mechanisms. The aim of this review is to discuss the most recent advances in this field, providing a conceptual framework to help the understanding of the responsible mechanisms and, when available, an update on the therapeutic perspectives.ANN NEUROL 2012;72:9-17.
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