Article
An integrated diagnosis strategy for congenital myopathies.
PloS one - 1 Jan 2013
Böhm Johann, Vasli Nasim, Malfatti Edoardo, Le Gras Stéphanie, Feger Claire, Jost Bernard, Monnier Nicole, Brocard Julie, Karasoy Hatice, Gérard Marion, Walter Maggie C, Reilich Peter, Biancalana Valérie, Kretz Christine, Messaddeq Nadia, Marty Isabelle, Lunardi Joël, Romero Norma B, Laporte Jocelyn
Abstract excerpt
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach....
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