A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

ConclusionPathogenic variants inTTN may be an unrecognized cause of skeletal myopathy phenotypes, particularly when accompanied by dilated cardiomyopathy.

Source: Molecular Genetics & Genomic Medicine - September 4, 2019 Category: Genetics & Stem Cells Authors: Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel Tags: CLINICAL REPORT Source Type: research