Novel desmoplakin mutation: Juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

Clinical Research in Cardiology

Volumn 100, Issue 12, 2011, Pages 1087-1093

  Williams, Tatjana ^a,b   Machann, Wolfram ^a   Kühler, Leif ^a   Hamm, Henning ^a   Mü ller Höcker, Josef ^c   Zimmer, Michael ^a   Ertl, Georg ^a   Ritter, Oliver ^a   Beer, Meinrad ^a   Schönberger, Jost ^a  

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^b ZEMM   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

Author keywords

Desmoplakin; Juvenile biventricular cardiomyopathy; Palmoplantar keratoderma

Indexed keywords

DESMOPLAKIN; PLAKOGLOBIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CARVAJAL SYNDROME; CHILD; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEART DEATH; HEART FAILURE; HEART RIGHT VENTRICLE DYSPLASIA; HEART TRANSPLANTATION; HIGH RISK PATIENT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LEFT VENTRICULAR NON COMPACTION; MALE; PALMOPLANTAR KERATODERMA; PHENOTYPE; SKIN MANIFESTATION; SYNDROME;

AGE OF ONSET; BASE SEQUENCE; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; DESMOPLAKINS; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HAIR DISEASES; HEART FAILURE; HOMOZYGOTE; HUMANS; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 84856007221     PISSN: 18610684     EISSN: 18610692     Source Type: Journal    
DOI: 10.1007/s00392-011-0345-9     Document Type: Article

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