Article
A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up.
Journal of the neurological sciences - 11 Jun 1998
Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, Nagai T, Okada S
Abstract excerpt
Kearns-Sayre syndrome (KSS) and Pearson syndrome (PS) show quite different phenotypes despite the same underlying genetic defect, i.e. a large deletion of one population of mitochondrial (mt) DNA. The main feature of KSS is progressive encephalomyopathy; on the other hand, PS shows fatal hematolo...
Topics
- Anemia, Sideroblastic
- Blotting, Southern
- Cells, Cultured
- Child
- DNA Replication
- DNA, Mitochondrial
- Diabetes Mellitus, Type 1
- Dwarfism, Pituitary
- Follow-Up Studies
- Human Growth Hormone
- Humans
- Kearns-Sayre Syndrome
- Leukocytes
- Male
- Muscle, Skeletal
- Organ Specificity
- Phenotype
- Sequence Deletion