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

doi:10.1093/hmg/ddt494

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Article

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

Human molecular genetics - 15 Feb 2014

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

Abstract excerpt

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 families with homozygous mutations of the TTN gene. TTN encodes titin, a giant protein of striated muscles. Recently,...

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PMID: 24105469
DOI: 10.1093/hmg/ddt494
PMCID: PMC3954110

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