Article
Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.
European neurology - 1 Jan 1994
Reichmann H, Angelini C
Abstract excerpt
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 succi...
Topics
- Adult
- Biopsy
- Cardiomyopathy, Hypertrophic
- Humans
- Male
- Muscles
- Phenotype
- Photomicrography
- Succinate Dehydrogenase
