Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. No congenital heart defect has been reported, and childhood-onset cardiomyopathy has been documented in only two CM fa...

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Hlavní autoři: Chauveau, Claire, Bonnemann, Carsten G., Julien, Cedric, Kho, Ay Lin, Marks, Harold, Talim, Beril, Maury, Philippe, Arne-Bes, Marie Christine, Uro-Coste, Emmanuelle, Alexandrovich, Alexander, Vihola, Anna, Schafer, Sebastian, Kaufmann, Beth, Medne, Livija, Hübner, Norbert, Foley, A. Reghan, Santi, Mariarita, Udd, Bjarne, Topaloglu, Haluk, Moore, Steven A., Gotthardt, Michael, Samuels, Mark E., Gautel, Mathias, Ferreiro, Ana
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3954110/
https://ncbi.nlm.nih.gov/pubmed/24105469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt494
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