Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and typ...

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Main Authors: Mercier, Sandra, Toutain, Annick, Toussaint, Aurélie, Raynaud, Martine, de Barace, Claire, Marcorelles, Pascale, Pasquier, Laurent, Blayau, Martine, Espil, Caroline, Parent, Philippe, Journel, Hubert, Lazaro, Leila, Andoni Urtizberea, Jon, Moerman, Alexandre, Faivre, Laurence, Eymard, Bruno, Maincent, Kim, Gherardi, Romain, Chaigne, Denys, Ben Yaou, Rabah, Leturcq, France, Chelly, Jamel, Desguerre, Isabelle
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722679/
https://ncbi.nlm.nih.gov/pubmed/23299919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.269
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