Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy

Mutations in MYBPC3 are the most common cause of hypertrophic cardiomyopathy (HCM). These mutations produce dysfunctional protein that is quickly degraded and not incorporated in the myofilaments. Most patients are heterozygous and allelic expression differs between cells. We hypothesized that this...

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Veröffentlicht in:	Journal of molecular and cellular cardiology 2018-10, Vol.123, p.59-63
Hauptverfasser:	Parbhudayal, R.Y., Garra, A.R., Götte, M.J.W., Michels, M., Pei, J., Harakalova, M., Asselbergs, F.W., van Rossum, A.C., van der Velden, J., Kuster, D.W.D.
Format:	Artikel
Sprache:	eng
Schlagworte:	cardiac myosin binding protein-C hypertrophic cardiomyopathy MYBPC3 mutation variable expression α-actin
Online-Zugang:	Volltext
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