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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Genet Genomic Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Original Articles
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky