Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C, Bonnemann CG, Julien C, Kho AL, Marks H, Talim B, Maury P, Arne-Bes MC, Uro-Coste E, Alexandrovich A, Vihola A, Schafer S, Kaufmann B, Medne L, Hübner N, Foley AR, Santi M, Udd B, Topaloglu H, Moore SA, Gotthardt M, Samuels ME, Gautel M, Ferreiro A.
Chauveau C, et al. Among authors: alexandrovich a.
Hum Mol Genet. 2014 Feb 15;23(4):980-91. doi: 10.1093/hmg/ddt494. Epub 2013 Oct 8.
Hum Mol Genet. 2014.
PMID: 24105469
Free PMC article.