Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Molecular Genetics & Genomic Medicine
Rich, Kelly A KA; Moscarello, Tia T; Siskind, Carly C; Brock, Guy G; Tan, Christopher A CA; Vatta, Matteo M; Winder, Thomas L TL; Elsheikh, Bakri B; Vicini, Leah L; Tucker, Brianna B; Palettas, Marilly M; Hershberger, Ray E RE; Kissel, John T JT; Morales, Ana A; Roggenbuck, Jennifer J
A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.
Molecular Genetics & Genomic Medicine
Roggenbuck, Jennifer J; Rich, Kelly K; Morales, Ana A; Tan, Christopher A CA; Eck, Douglas D; King, Wendy W; Vatta, Matteo M; Winder, Thomas T; Elsheikh, Bakri B; Hershberger, Ray E RE; Kissel, John T JT