Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy.
نویسندگان
چکیده
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right ventricle, and causes life-threatening ventricular arrhythmia. Mutations of plakophilin-2 (PKP2) have recently been identified as one causative abnormality in ARVC. A case of ARVC with a mutation of PKP2 is reported here. Direct sequencing of the patient's DNA revealed an insertion mutation in exon 8 of PKP2 (1728_1729insGATG). The mutation caused the frameshift and the premature termination of translation (R577DfsX5). This is the first case report of PKP2 mutation found in Japanese ARVC patients.
منابع مشابه
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.
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عنوان ژورنال:
- Circulation journal : official journal of the Japanese Circulation Society
دوره 70 7 شماره
صفحات -
تاریخ انتشار 2006