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...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Clinical Report
Online adgang: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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