Person:
Fernández Arquero, Miguel

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First Name
Miguel
Last Name
Fernández Arquero
URI
https://hdl.handle.net/20.500.14352/79271
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Medicina
Department
Inmunología, Oftalmología y ORL
Area
Inmunología
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Author: Fernández Arquero, Miguel × Subject: 616.12 ×

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    Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications
    (International Journal of Cardiology, 2007) Alonso Orgaz, S; Zamorano León, José Javier; Fernández Arquero, Miguel; Pérez Villacastín Domínguez, Julián; Perez-Castellano, N; García Torrent, María Jesús; Macaya Miguel, Carlos; López Farre, Antonio José
    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.