Article
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Molecular genetics & genomic medicine - 1 Oct 2020
Rich Kelly A, Moscarello Tia, Siskind Carly, Brock Guy, Tan Christopher A, Vatta Matteo, Winder Thomas L, Elsheikh Bakri, Vicini Leah, Tucker Brianna, Palettas Marilly, Hershberger Ray E, Kissel John T, Morales Ana, Roggenbuck Jennifer
Abstract excerpt
BACKGROUND: Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of the spectrum of disease, interpretation of TTN variants is often difficult for laboratories and clinicians. Currently, cardiomyopathy is associated with heterozygous...
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