An Integrated Diagnosis Strategy for Congenital Myopathies

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...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2013
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3691193/
https://ncbi.nlm.nih.gov/pubmed/23826317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0067527
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