کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2813752 1569477 2015 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy
چکیده انگلیسی

A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic cardiovascular exploration and molecular investigations. The molecular analysis, performed by NGS sequencing, led to identify only one likely-disease causing variation: p.Gly482Arg on HCN4 gene. Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia–NCCM phenotype and illustrates that, in front of this combined clinical phenotype, HCN4 mutations has to be suspected.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 58, Issue 9, September 2015, Pages 439–442
نویسندگان
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