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Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

被引：55
作者：
Budde, SMS
van den Heuvel, LPWJ
Smeets, RJP
Skladal, D
Mayr, JA
Boelen, C
Petruzzella, V
Papa, S
Smeitink, JAM
机构：
[1] Univ Med Ctr Nijmegen, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands
[2] Univ Childrens Hosp, Innsbruck, Austria
[3] Childrens Hosp, Salzburg, Austria
[4] Univ Bari, Dept Med Biochem & Med Biol, Bari, Italy
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2003年 / 26卷 / 08期
关键词：
D O I：
10.1023/B:BOLI.0000010003.14113.af
中图分类号：
R5 [内科学];
学科分类号：
1002 [临床医学]; 100201 [内科学];
摘要：
A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.
引用
收藏
页码：813 / 815
页数：3
相关论文
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