作者: Alessandra Rampazzo , Andrea Nava , Gian A. Danieli , Gianfranco Buja , Luciano Daliento
DOI: 10.1093/HMG/3.6.959
关键词:
摘要: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) is a dominantly inherited disorder progressively affecting the myocardium and it one of major causes juvenile sudden death. The chromosomal localization disease gene reported here for first time. A maximum lod score 6.04 was obtained at theta = 0 linkage with polymorphic marker D14S42 (14q23-q24) in two families, which has 82 subjects (19 affected) four generations. pre-symptomatic identification ARVD carriers by analysis affected families strongly increases possibility prevention life-threatening complications.