Article
Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome.
Pediatric research - 1 Jun 1992
Fischel-Ghodsian N, Bohlman M C, Prezant T R, Graham J M, Cederbaum S D, Edwards M J
Abstract excerpt
Mitochondrial DNA deletions have been described in the Kearns-Sayre syndrome (KSS) and the Pearson's marrow-pancreas syndrome. In some cases, the same 4,977-bp deletion has been identified in these two very different diseases. Therefore, it is not currently possible to predict the clinical phenotype from the size or location of the deletion. Instead, differential tissue distribution of the deletion has been...
Topics
- Anemia, Sideroblastic
- Base Sequence
- Child
- Chromosome Deletion
- Chromosome Mapping
- DNA, Mitochondrial
- Humans
- Kearns-Sayre Syndrome
- Male
- Molecular Sequence Data
- Pancreatic Diseases