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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Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2019
Aiheet:
Clinical Report
Linkit: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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