Article
[Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].
Klinika oczna - 1 Jun 1995
Midro A T, Zalewska R, Skrzypczak-Adamiak G, Wilichowski E
Abstract excerpt
We present a case of Kearns-Sayre syndrome diagnosed in a boy with retinitis pigmentosa ophthalmoplegia, ancephalomyopathy and cardiomyopathy. A single large-scale mtDNA deletion at very low level in the blood sample using Southern blot analyses and multiprimer DNA amplification was detected. This case demonstrates that retinitis pigmentosa may be due to genetic mitochondrial disturbances.
Topics
- Adolescent
- Blotting, Southern
- Chromosome Deletion
- DNA, Mitochondrial
- Gene Amplification
- Humans
- Kearns-Sayre Syndrome
- Male
- Mutation
- Retinitis Pigmentosa