Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

被引：16

作者：

Ardissone, Anna ^{[1
]}

Invernizzi, Federica ^{[2
]}

Nasca, Alessia ^{[2
]}

Moroni, Isabella ^{[1
]}

Farina, Laura ^{[3
]}

Ghezzi, Daniele ^{[1
]}

机构：

[1] IRCCS, Fdn Ist Neurol Carlo Besta, Unit Child Neurol, Milan, Italy

[2] IRCCS, Fdn Ist Neurol Carlo Besta, Unit Mol Neurogenet, Milan, Italy

[3] IRCCS, Fdn Ist Neurol Carlo Besta, Unit Neuroradiol, Milan, Italy

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2015年 / 5卷

关键词：

SDHB; Mitochondrial complex II; Leukoencephalopathy; Mitochondrial disorder;

D O I：

10.1016/j.ymgmr.2015.10.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical presentations are associated with this biochemical defect: mitochondrial encephalomyopathy and susceptibility to tumors. Only one homozygous SDHB mutation has been described in a patient with mitochondrial disorder. We report here two sisters, who presented highly different phenotypes (neurological impairment with leukoencephalopathy vs. asymptomatic status) and harbored the same homozygous SDHB mutation, suggesting reduced penetrance. (C) 2015 The Authors. Published by Elsevier Inc.

引用

页码：51 / 54

页数：4

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