De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease

Swiss Medical Weekly

Volumn 142, Issue , 2012, Pages

  Keller, Dagmar I ^a   Stepowski, Dimitri ^b   Balmer, Christian ^c   Simon, Françoise ^d   Guenthard, Joelle ^e   Bauer, Fabrice ^b   Itin, Peter ^e   David, Nadine ^f   Drouin Garraud, Valérie ^f   Fressart, Véronique ^d  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY HOSPITAL BASEL   (Switzerland)

^f HÔPITAL CHARLES NICOLLE   (France)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy dysplasia; Autosomal recessive; De novo mutations; Desmoplakin gene; Mutation hot spots; Naxos Carvajal syndrome

Indexed keywords

DESMOPLAKIN; ISOLEUCINE; LEUCINE; PROLINE; THREONINE;

ADOLESCENT; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; DESMOPLAKIN GENE; DESMOSOME; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE; GENE LOCATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SCREENING; GENETIC VARIABILITY; HAIR DISEASE; HEART LEFT VENTRICLE; HEART RIGHT VENTRICLE; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NAXOS CARVAJAL DISEASE; NUCLEOTIDE SEQUENCE; PALMOPLANTAR KERATODERMA; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; SUDDEN DEATH; WOOLLY HAIR; GENETICS; MALE;

ADOLESCENT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOPLAKINS; FEMALE; HAIR DISEASES; HETEROZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE;

EID: 84866297939     PISSN: 14247860     EISSN: None     Source Type: Journal    
DOI: 10.4414/smw.2012.13670     Document Type: Article

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