Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency

Heinz Reichmann, Corrado Angelini

Research output: Contribution to journalArticle

Abstract

We report 2 brothers with hypertrophic cardiomyopathy, lipid storage and skeletal mitochondrial myopathy. Biochemical analyses detected complex II (succinate dehydrogenase) deficiency of the respiratory chain. Single fiber analyses using a microphotometer were performed and revealed reduced succinate dehydrogenase activity in all muscle fibers. This report shows the validity of kinetic microphotometric analysis in revealing complex II defects.

Original languageEnglish
Pages (from-to)95-98
Number of pages4
JournalEuropean Neurology
Volume34
Issue number2
DOIs
Publication statusPublished - 1994

Keywords

  • Cardiomyopathy
  • SDH deficiency
  • Single fiber analysis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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