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The ever‐expanding spectrum of congenital muscular dystrophies
Author(s) -
Mercuri Eugenio,
Muntoni Francesco
Publication year - 2012
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.23548
Subject(s) - identification (biology) , computational biology , gene , pathological , bioinformatics , biology , medicine , neuroscience , genetics , computer science , pathology , botany
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