TY  - JOUR
AU  - Bermúdez-Jiménez, Francisco José
AU  - Carriel, Víctor
AU  - Brodehl, Andreas
AU  - Alaminos, Miguel
AU  - Campos, Antonio
AU  - Schirmer, Ilona
AU  - Milting, Hendrik
AU  - Abril, Beatriz Álvarez
AU  - Álvarez, Miguel
AU  - López-Fernández, Silvia
AU  - García-Giustiniani, Diego
AU  - Monserrat, Lorenzo
AU  - Tercedor, Luis
AU  - Jiménez-Jáimez, Juan
PY  - 2017
DO  - 10.1161/CIRCULATIONAHA.117.028719
UR  - http://hdl.handle.net/10668/11883
T2  - Circulation
AB  - 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 their cellular...
LA  - en
KW  - arrhythmogenic right ventricular dysplasia
KW  - desmin
KW  - mutation
KW  - myopathy, myofibrillar, desmin-related
KW  - ventricular fibrillation
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Aged, 80 and over
KW  - Arrhythmias, Cardiac
KW  - Cardiomyopathies
KW  - Cell Differentiation
KW  - Cells, Cultured
KW  - Child
KW  - Desmin
KW  - Electrocardiography
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Heart Defects, Congenital
KW  - Heart Ventricles
KW  - Heredity
KW  - Heterozygote
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mesenchymal Stem Cells
KW  - Middle Aged
KW  - Mutation
KW  - Myocytes, Cardiac
KW  - Pedigree
KW  - Phenotype
KW  - Spain
KW  - Young Adult
TI  - Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
TY  - research article
VL  - 137
ER  -