Ontology highlight
ABSTRACT:
SUBMITTER: Roggenbuck J
PROVIDER: S-EPMC6825852 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
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
Molecular genetics & genomic medicine 20190905 11
<h4>Background</h4>Pathogenic variants in TTN (OMIM 188840), encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation of TTN variants is challenging, however, due to the frequency of missense changes, variable testing and reporting practices in commercial laboratories, and incomplete understanding of the spectrum of TTN-related disease.<h4>Methods</h4>We report a heterozygous TTN deletion segregating in a fa ...[more]