مهدیه, نجات
استادیار آزمایشگاه کاردیوژنتیک، مرکز تحقیقات ژنتیک قلب و عروق شهید رجایی، مرکز آموزشی، تحقیقاتی و درمانی قلب و عروق شهید رجایی، دانشگاه علوم پزشکی ایران، تهران، ایران
[ 1 ] - ژنتیک فنیلکتونوری در ایران: مرور مطالعات گذشته
Background and purpose: Phenylketonuria (PKU), a genetic disorder with an autosomal recessive pattern of inheritance, is mainly due to phenyalanine hydroxylase deficiency. In Iran, many studies have investigated the genetics of this disease among different populations. This study aimed to report the frequencies of the mutations for each population as determined in different studies. Material...
[ 2 ] - A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
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