Article
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?
American journal of medical genetics - 1 Dec 1991
Moraes C T, Zeviani M, Schon E A, Hickman R O, Vlcek B W, DiMauro S
Abstract excerpt
Lowe oculocerebrorenal syndrome is an X-linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndr...
Topics
- Base Sequence
- Blotting, Southern
- Child
- Chromosome Deletion
- DNA, Mitochondrial
- Female
- Genetic Linkage
- Humans
- Kearns-Sayre Syndrome
- Oculocerebrorenal Syndrome
- Phenotype
- Polymerase Chain Reaction
- X Chromosome