Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

BACKGROUND: Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of the spectrum of disease, interpretation of TTN var...

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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Rich, Kelly A., Moscarello, Tia, Siskind, Carly, Brock, Guy, Tan, Christopher A., Vatta, Matteo, Winder, Thomas L., Elsheikh, Bakri, Vicini, Leah, Tucker, Brianna, Palettas, Marilly, Hershberger, Ray E., Kissel, John T., Morales, Ana, Roggenbuck, Jennifer
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Original Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549586/
https://ncbi.nlm.nih.gov/pubmed/32815318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1460
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