TY  - JOUR
AU  - Dominguez, Fernando
AU  - Zorio, Esther
AU  - Jimenez-Jaimez, Juan
AU  - Salguero-Bodes, Rafael
AU  - Zwart, Robert
AU  - Gonzalez-Lopez, Esther
AU  - Molina, Pilar
AU  - Bermúdez-Jiménez, Francisco
AU  - Delgado, Juan F
AU  - Braza-Boïls, Aitana
AU  - Bornstein, Belen
AU  - Toquero, Jorge
AU  - Segovia, Javier
AU  - Van Tintelen, J Peter
AU  - Lara-Pezzi, Enrique
AU  - Garcia-Pavia, Pablo
PY  - 2020
DO  - 10.1016/j.hrthm.2020.01.035
UR  - http://hdl.handle.net/10668/15114
T2  - Heart rhythm
AB  - Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene TMEM43-endemic to Newfoundland, Canada. To...
LA  - en
KW  - Arrhythmia
KW  - Arrhythmogenic right ventricular cardiomyopathy
KW  - Exercise
KW  - Genetics
KW  - TMEM43
KW  - Adult
KW  - Arrhythmogenic Right Ventricular Dysplasia
KW  - DNA
KW  - DNA Mutational Analysis
KW  - Electrocardiography
KW  - Female
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Stroke Volume
KW  - Ventricular Function, Left
TI  - Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
TY  - research article
VL  - 17
ER  -