KBTBD13 is a novel cardiomyopathy gene

KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). Although KBTBD13 is expressed in cardiac muscle, cardiac involvement in NEM6 is unknown. Here, we constructed pedigrees of three famil...

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Detalles Bibliográficos
Autores principales: de Winter, Josine M., Bouman, Karlijn, Strom, Joshua, Methawasin, Mei, Jongbloed, Jan D. H., van der Roest, Wilma, van Wijngaarden, Jan, Timmermans, Janneke, Nijveldt, Robin, van den Heuvel, Frederik, Kamsteeg, Erik‐Jan, van Engelen, Baziel G., Galli, Ricardo, Bogaards, Sylvia J. P., Boon, Reinier A., van der Pijl, Robbert J., Granzier, Henk, Koeleman, Bobby, Amin, Ahmad S., van der Velden, Jolanda, van Tintelen, J. Peter, van den Berg, Maarten P., van Spaendonck‐Zwarts, Karin Y., Voermans, Nicol C., Ottenheijm, Coen A. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100581/
https://www.ncbi.nlm.nih.gov/pubmed/36335629
http://dx.doi.org/10.1002/humu.24499

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