Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications

International Journal of Cardiology

Volumn 118, Issue 2, 2007, Pages 275-277

  Alonso Orgaz, Sergio ^a   Zamorano León, Jose J ^a   Fernandez Arquero, Miguel ^a   Villacastín, Julian ^b   Perez Castellanos, Nicasio ^b   García Torrent, Maria J ^b   Macaya, Carlos ^a,b   López Farré, Antonio J ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b Instituto Cardiovascular   (Spain)

Author keywords

Cardiomyopathy; Carvajal syndrome; Gene mutation; Naxos disease

Indexed keywords

DESMOPLAKIN; PLAKOGLOBIN; RESTRICTION ENDONUCLEASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CARDIOMYOPATHY; CASE REPORT; DNA MODIFICATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXON; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HAIR DISEASE; HEART PALPITATION; HEART RIGHT VENTRICLE DYSPLASIA; HOSPITAL ADMISSION; HUMAN; INFORMED CONSENT; INTRON; KERATOSIS PALMOPLANTARIS; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; QRS COMPLEX; QT PROLONGATION; RESTRICTION SITE; SKIN DISEASE; SPAIN; STOP CODON; SYNCOPE; T WAVE INVERSION; WILD TYPE;

ADULT; ARRHYTHMIA; CARDIOMYOPATHIES; DESMOPLAKINS; DIAGNOSIS, DIFFERENTIAL; GAMMA CATENIN; HAIR DISEASES; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; SEQUENCE ANALYSIS, DNA; SYNDROME; VENTRICULAR DYSFUNCTION, RIGHT;

EID: 34247136805     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2006.06.065     Document Type: Article

References (6)

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5. Norgett E.E., Hatsell S.J., Carvajal-Huerta L., et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filaments interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9 (2000) 2761-2766
6. Rampazzo A., Nava A., Malacrida A., et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71 (2002) 1200-1206