December 7, 2017Scientific ReportsOpen Access

Identification of MYLK3 mutations in familial dilated cardiomyopathy

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Population

1 pedigree with familial dilated cardiomyopathy and a cohort of 52 unrelated DCM patients. Total 5 patients…

Design

Cohort

Authors

TTTakashige TobitaTokyo Women's Medical University SNSeitaro NomuraHeart Failure / Cardiomyopathy HMHiroyuki MoritaNihon University

Discussion

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Implication

Novel myosin read-through mutation identified in familial DCM; hypothesis-generating and requires replication before clinical consideration.

Structured PICO

Population

1 pedigree with familial dilated cardiomyopathy (DCM) and a cohort of 52 unrelated DCM patients. Total 5 patients identified with MYLK3 mutations.

Outcome

Identification of pathogenic genetic mutations causing familial dilated cardiomyopathysurrogate

This study provides the first evidence that MYLK3 mutations can cause dilated cardiomyopathy in humans by reducing cardiac myosin light chain kinase expression and MLC2 phosphorylation.

Cite This Study

Tobita et al. (2017) studied this question.

synapsesocial.com/papers/6a77e38de4645e92c9bd722e https://doi.org/10.1038/s41598-017-17769-1

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Implication

Novel myosin read-through mutation identified in familial DCM; hypothesis-generating and requires replication before clinical consideration.

Identification of MYLK3 mutations in familial dilated cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Identification of MYLK3 mutations in familial dilated cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

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