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

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 testing...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Roggenbuck, Jennifer, Rich, Kelly, Morales, Ana, Tan, Christopher A., Eck, Douglas, King, Wendy, Vatta, Matteo, Winder, Thomas, Elsheikh, Bakri, Hershberger, Ray E., Kissel, John T.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Clinical Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6825852/
https://ncbi.nlm.nih.gov/pubmed/31489791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.924
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