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

Anna Ardissone, Federica Invernizzi, Alessia Nasca, Isabella Moroni, Laura Farina, Daniele Ghezzi

Research output: Contribution to journalArticle

Abstract

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 SDHBmutation has been described in a patient with mitochondrial disorder. We report here two sisters, who presented highly different phenotypes (neurological impairmentwith leukoencephalopathy vs. asymptomatic status) and harbored the same homozygous SDHB mutation, suggesting reduced penetrance.

Original languageEnglish
Pages (from-to)51-54
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume5
DOIs
Publication statusPublished - Dec 1 2015

Keywords

  • Leukoencephalopathy
  • Mitochondrial complex II
  • Mitochondrial disorder
  • SDHB

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Molecular Biology

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