TY  - GEN 
AU  - Bermúdez Jiménez, Francisco José
AU  - Carriel Araya, Víctor
AU  - Brodehl, Andreas
AU  - Alaminos Mingorance, Miguel
AU  - Campos Muñoz, Antonio Jesús
AU  - Schirmer, Ilona
AU  - Milting, Hendrik
AU  - Álvarez Abril, Beatriz
AU  - Álvarez, Miguel
AU  - López Fernández, Silvia
AU  - García-Giustiniani, Diego
AU  - Monserrat, Lorenzo
AU  - Tercedor, Luis
AU  - Jiménez Jáimez, Juan
PY  - 2018
UR  - https://hdl.handle.net/10481/89514
AB  - Background:Desmin (DES) mutations cause severe skeletal and cardiac muscle disease with heterogeneous phenotypes. Recently, DES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopathy/dysplasia, although...
LA  - eng
PB  - American Heart Association
KW  - Arrhythmogenic right ventricular dysplasia
KW  - Desmin
KW  - Mutation
KW  - Myopathy, myofribillar, desmin-related
KW  - Ventricular fibrillation
TI  - Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
DO  - 10.1161/CIRCULATIONAHA.117.028719
ER  -