RT Journal Article
T1 Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications
A1 Alonso Orgaz, S
A1 Zamorano León, José Javier
A1 Fernández Arquero, Miguel
A1 Pérez Villacastín Domínguez, Julián
A1 Pérez Castellano, Nicasio
A1 García Torrent, María Jesús
A1 Macaya Miguel, Carlos
A1 López Farre, Antonio José
AB We report a case of a 43 year old man from Spain, who has been diagnosed with Naxos disease. It is a hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy, which has been associated with a mutation in plakoglobin encoding gene in chromosome 17q21. In the patient, the direct sequencing of the plakoglobin gene discarded TG deletion at 2157 characteristic of Naxos disease. Analysis of the reported desmoplakin mutations associated with Carvajal Syndrome, another ARVC disease, that it is also accompanied with a skin and hair disorder, also failed to reveal mutations in desmoplakin gene. These results suggest the existence of other causative genes and/or other putative sites in desmoplakin/plakoglobin encoding genes than those recently published.
PB Elsevier
SN 0167-5273
YR 2007
FD 2007-05-31
LK https://hdl.handle.net/20.500.14352/100921
UL https://hdl.handle.net/20.500.14352/100921
LA eng
DS Docta Complutense
RD 6 abr 2025