Why the study?
Few data exist on the relationship between cardiac myosin light chain kinase (cMLCK) mutations and MLC2v phosphorylation, especially regarding familial DCM development.
Are cMLCK gene mutations associated with impaired MLC2v phosphorylation and the development of dilated cardiomyopathy?
Are cMLCK gene mutations associated with impaired MLC2v phosphorylation and the development of dilated cardiomyopathy?
A truncation mutation in the cMLCK gene (p.Pro639Valfs*15) abolishes kinase activity and may contribute to the development of familial dilated cardiomyopathy.
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May implicate cMLCK mutations in some familial DCM; leaves open mechanistic confirmation and screening utility.
Hodatsu et al. (2019) studied this question.
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