Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy

Circ Genom Precis Med. 2018 Sep;11(9):e002241. doi: 10.1161/CIRCGEN.118.002241.

Authors

Bertrand Favre^{1

2}, Nadja Begré^{1

2}, Luisa Marsili^{3

4}, J Peter van Tintelen³, Luca Borradori¹

Affiliations

¹ Department of Dermatology, Inselspital, Bern University Hospital (B.F., N.B., L.B.).
² Department for BioMedical Research (DBMR), University of Bern, Switzerland (B.F., N.B.).
³ Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (L.M., J.P.v.T.).
⁴ Department of Clinical Genetics, Lille University Hospital, CHU Lille, France (L.M.).

PMID: 30354334
DOI: 10.1161/CIRCGEN.118.002241

No abstract available

Keywords: desmin; desmoplakins; desmosomes; hair; intermediate filaments.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Arrhythmias, Cardiac / complications
Arrhythmias, Cardiac / genetics
Arrhythmias, Cardiac / metabolism*
Cardiomyopathies / complications
Cardiomyopathies / genetics
Cardiomyopathies / metabolism*
Desmin / metabolism
Desmoplakins / genetics
Desmoplakins / metabolism*
Humans
Intermediate Filament Proteins / metabolism*
Intermediate Filaments / metabolism*
Mutation*
Protein Binding
Risk Factors
Vimentin / metabolism

Substances

Desmin
Desmoplakins
Intermediate Filament Proteins
Vimentin