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May 5, 2017Biophysical ReviewsOpen Access

Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy

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Population

Patients with dilated cardiomyopathy (DCM) and individuals with titin-truncating variants (TTNtv)

Design

Review

Authors

ATAli M. TabishKarolinska InstitutetVAValerio AzzimatoKarolinska University HospitalAAAris AlexiadisBarts Health NHS Trust

Discussion

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Overview

Incidental TTNtv findings require cautious clinical interpretation; leaves open how position-dependent effects.

Structured PICO

P
Population
Patients with dilated cardiomyopathy (DCM) and individuals with titin-truncating variants (TTNtv)

This review highlights the complex role of titin-truncating variants in dilated cardiomyopathy, emphasizing the need to understand position-dependent effects and gene-environment interactions for risk assessment.

Cite This Study

Tabish et al. (2017) studied this question.

synapsesocial.com/papers/6a82c2e2fb68d755121c24b5https://doi.org/10.1007/s12551-017-0265-7
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Truncations of Titin Causing Dilated Cardiomyopathy2012 · 1,515 citations
  2. 2Prevalence of Titin Truncating Variants in General Population2015 · 119 citations
  3. 3Truncation of Titin’s Elastic PEVK Region Leads to Cardiomyopathy With Diastolic Dysfunction2009 · 113 citations
  4. 4Identification of Novel Mutations in <i>RBM20</i> in Patients with Dilated Cardiomyopathy2010 · 205 citations
  5. 5Titin Diversity—Alternative Splicing Gone Wild2010 · 160 citations