The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

doi:10.1161/CIRCGENETICS.113.000103

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Article

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Circulation. Cardiovascular genetics - 1 Dec 2013

Brodehl Andreas, Dieding Mareike, Klauke Bärbel, Dec Eric, Madaan Shrestha, Huang Taosheng, Gargus John, Fatima Azra, Saric Tomo, Cakar Hamdin, Walhorn Volker, Tönsing Katja, Skrzipczyk Tim, Cebulla Ramona, Gerdes Désirée, Schulz Uwe, Gummert Jan, Svendsen Jesper Hastrup, Olesen Morten Salling, Anselmetti Dario, Christensen Alex Hørby, Kimonis Virginia, Milting Hendrik

Abstract excerpt

BACKGROUND: The intermediate filament protein desmin is encoded by the gene DES and contributes to the mechanical stabilization of the striated muscle sarcomere and cell contacts within the cardiac intercalated disk. DES mutations cause severe skeletal and cardiac muscle diseases with heterogeneous phenotypes. Recently, DES mutations were also found in patients with arrhythmogenic right ventricular...

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PMID: 24200904
DOI: 10.1161/CIRCGENETICS.113.000103

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