A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy.
Jennifer RoggenbuckKelly RichAna MoralesChristopher A TanDouglas EckWendy KingMatteo VattaThomas WinderBakri ElsheikhRay E HershbergerJohn T KisselPublished in: Molecular genetics & genomic medicine (2019)
Pathogenic variants in TTN may be an unrecognized cause of skeletal myopathy phenotypes, particularly when accompanied by dilated cardiomyopathy.