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  • 标题:Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance
  • 作者:Anna Ardissone ; Federica Invernizzi ; Alessia Nasca
  • 期刊名称:Molecular Genetics and Metabolism Reports
  • 印刷版ISSN:2214-4269
  • 出版年度:2015
  • 卷号:5
  • 页码:51-54
  • DOI:10.1016/j.ymgmr.2015.10.006
  • 出版社:Elsevier B.V.
  • 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.

  • 关键词:SDHB ; Mitochondrial complex II ; Leukoencephalopathy ; Mitochondrial disorder
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