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Rampazzo, Alessandra; Nava, Andrea; Malacrida, Sandro; Beffagna, Giorgia; Bauce, Barbara; Rossi, Valeria; Zimbello, Rosanna; Simionati, Barbara; Basso, Cristina; Thiene, Gaetano; Towbin, Jeffrey A.; Danieli, Gian A.
American journal of human genetics, 11/2002, Letnik: 71, Številka: 5Journal Article
Arrhythmogenic right ventricular cardiomyopathy (ARVD/C) is a genetically heterogeneous disease characterized by progressive degeneration of the right ventricular myocardium and increased risk of sudden death. Here, we report on a genome scan in one Italian family in which the disease appeared unlinked to any of the six different ARVD loci reported so far; we identify a mutation (S299R) in exon 7 of desmoplakin (DSP), which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin. It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs. Therefore, different DSP mutations might produce different clinical phenotypes, with different modes of inheritance.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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