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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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Clinical Report
Länkar: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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