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

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

Abstract Background 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...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
dilated cardiomyopathy
myopathy
TTN
variant interpretation
Online Access:https://doi.org/10.1002/mgg3.924

Internet

https://doi.org/10.1002/mgg3.924

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