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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: | , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado: |
Nature Publishing Group
2013
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Assuntos: | |
Acceso en liña: | 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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