The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

被引：20

作者：

Bandelt, Hans-Juergen ^{[1
]}

Yao, Yong-Gang ^{[2
]}

Salas, Antonio ^{[3
,4
]}

机构：

[1] Univ Hamburg, Dept Math, D-20146 Hamburg, Germany

[2] Chinese Acad Sci, Kunming Inst Zool, Key Lab Cellular & Mol Evolut, Kunming 650223, Peoples R China

[3] Univ Santiago Compostela, Fac Med, Inst Med Legale, Unidad Genet, Galicia 15782, Spain

[4] Hosp Clin Univ, Ctr Nacl Genotipado CeGen, Galicia 15706, Spain

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2008年 / 126卷 / 03期

关键词：

hypertrophic cardiomyopathy; Noonan syndrome; mitochondrial DNA mutation; haplogroup; MITOMAP;

D O I：

10.1016/j.ijcard.2007.02.049

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

MITOMAP is by far the most frequently cited Web resource that is referred to in substantiating novelty of an mtDNA mutation. This database, as is now known, has quite an incomplete coverage of the mtDNA mutations from the literature. This circumstance has seduced many scholars of medical genetics in the past to claim novelty of rather 'worn-out' mtDNA mutations. What is, however, really novel in the field is that researchers take advantage of this situation and deliberately suppress information from other sources, as it appears to have occurred in two recently published cases of hypertrophic cardiomyopathy. (C) 2007 Elsevier Ireland Ltd. All rights reserved.

引用

页码：439 / 442

页数：4

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