Novel mitochondrial DNA mutations implicated in Noonan syndrome

被引：11

作者：

Dhandapany, Perundurai S.

Sadayappan, Sakthivel

Vanniarajan, Ayyasamy

Karthikeyan, Bose

Nagaraj, Chandran

Gowrishankar, Kalpana

Selvam, Govindan Sadasivam

Singh, Lalji

Thangaraj, Kumarasamy ^{[1
]}

机构：

[1] Ctr Cellular & Mol Biol, Hyderabad 500007, Andhra Pradesh, India

[2] Kanchi Kamakoti CHILDS Trust Hosp, Dept Genet, Madras 600034, Tamil Nadu, India

[3] Madurai Kamaraj Univ, Sch Biol Sci, Dept Biochem, Madurai 625021, Tamil Nadu, India

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2007年 / 120卷 / 02期

关键词：

Noonan syndrome; mitochondrial DNA mutations; hypertrophic cardiomyopathy; sarcomeric protein mutation;

D O I：

10.1016/j.ijcard.2006.07.229

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a case of Noonan syndrome with compound mutations in a sarcomeric contractile protein gene and several novel mutations in mitochondrial genes. Our case forms the first report, which emphasizes the importance of mtDNA mutations in Noonan syndrome and extends the scope for mitochondrial related syndromes. (c) 2006 Elsevier Ireland Ltd. All rights reserved.

引用

页码：284 / 285

页数：2

共 6 条

[1] Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis [J].