Article
An immunocytochemical approach to detection of mitochondrial disorders.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society - 1 Oct 2002
Hanson Bonnie J, Capaldi Roderick A, Marusich Michael F, Sherwood Steven W
Abstract excerpt
Mitochondrial disorders can lead to a confusing array of symptoms, which frequently makes a diagnosis difficult. Traditional approaches to such diagnoses are based on enzyme activity assays, with further characterization provided by genetic analysis. However, these methods require relatively large sample sizes, are time-consuming, labor-intensive, and show variability between laboratories. Here, we report an...
Topics
- Cell Line
- DNA, Mitochondrial
- Fibroblasts
- Humans
- Immunohistochemistry
- Leigh Disease
- Mitochondrial Diseases
- Mosaicism
- Mutation
- Phosphorylation
- Pyruvate Dehydrogenase Complex