丹恩病是儿童高伤性心肌病的未被认可的原因
Zhao Yang1, Colin J McMahon, Liana R Smith
1Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Circulation
|September 8, 2005
概括
Lysosome-associated protein-2 (LAMP-2) 基因突变在4%的儿科高性心肌病 (HCM) 患者中被发现,这表明丹农病在患有HCM,骨肌病或沃尔夫-帕金森-怀特综合征的儿童中经常被忽视.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 罕见疾病 罕见疾病
背景情况:
- 缩性心肌病 (HCM) 和左心室缩可以与骨肌病和沃尔夫-帕金森-怀特综合征 (WPW) 一起发生.
- lysosome-associated protein-2 (LAMP-2) 基因的突变与这些综合性疾病有关,表明达农病.
- 这项研究旨在确定儿科HCM患者LAMP2突变的流行率.
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