Diagnosis of mitochondrial DNA depletion syndromes

被引：45
|
作者：
Rahman, Shamima [1 ,2 ,3 ]
Poulton, Joanna [4 ,5 ]
机构：
[1] UCL Inst Child Hlth, Mitochondrial Res Grp, London, England
[2] Natl Hosp Neurol, MRC Ctr Neuromuscular Dis, London, England
[3] Great Ormond St Hosp Sick Children, Metab Unit, London WC1N 3JH, England
[4] Univ Oxford, Nuffield Dept Obstet & Gynaecol, Oxford, England
[5] Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London WC1N 3JH, England
来源：
ARCHIVES OF DISEASE IN CHILDHOOD | 2009年 / 94卷 / 01期
基金：
英国医学研究理事会; 英国惠康基金;
关键词：
COMPARATIVE GENOMIC HYBRIDIZATION; DGK GENE-MUTATIONS; DEOXYGUANOSINE KINASE; RESPIRATORY-CHAIN; SUCLA2; MUTATIONS; MTDNA DEPLETION; DEFICIENCY; ENCEPHALOMYOPATHY; FEATURES; MYOPATHY;
D O I：
10.1136/adc.2008.147983
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：3 / 5
页数：3
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