title: [Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].
abstract: 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.
authors.affiliation: Zakładu Genetyki Klinicznej, AM w Białymstoku.
authors.forename: A T
authors.initials: AT
authors.lastname: Midro
authors.forename: R
authors.initials: R
authors.lastname: Zalewska
authors.forename: G
authors.initials: G
authors.lastname: Skrzypczak-Adamiak
authors.forename: E
authors.initials: E
authors.lastname: Wilichowski
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005784:Gene Amplification; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
vernacular_title: Retinitis pigmentosa w zespole Kearns'a i Sayre'a powstałym w wyniku mutacji DNA mitochondrialnego "de novo".