Congenital myopathies: Natural history of a large pediatric cohort

OBJECTIVE: To assess the natural history of congenital myopathies (CMs) due to different genotypes. METHODS: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. RESULTS: Genetic char...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Colombo, Irene, Scoto, Mariacristina, Manzur, Adnan Y., Robb, Stephanie A., Maggi, Lorenzo, Gowda, Vasantha, Cullup, Thomas, Yau, Michael, Phadke, Rahul, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4336094/
https://ncbi.nlm.nih.gov/pubmed/25428687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001110
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