Back to Search
Start Over
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.
- Source :
-
Journal of submicroscopic cytology and pathology [J Submicrosc Cytol Pathol] 1998 Oct; Vol. 30 (4), pp. 521-6. - Publication Year :
- 1998
-
Abstract
- Autosomal dominant chronic progressive external ophthalmoplegia (AdPEO) is a muscle mitochondrial disorder due to multiple large scale rearrangements of the mitochondrial DNA. This disorder is probably due to a nuclear defect which causes genetic instability or an impairment in the replication of mitochondrial DNA. X-linked ichthyosis (XLI) is a skin disorder caused by a deletion in the steroid-sulphatase gene. Here we report the clinical, biochemical, morphologic and molecular genetic findings in a patient affected by both AdPEO, inherited by the father, and steroid-sulphatase-deficiency, inherited by the mother. The association in the same patient of the two inherited diseases is merely casual and does not seem to influence the phenotypic expression of the two diseases.
- Subjects :
- Aged
Female
Genes, Dominant
Genetic Linkage
Humans
Male
Pedigree
Sequence Deletion
DNA, Mitochondrial genetics
Ichthyosis complications
Ichthyosis genetics
Ichthyosis pathology
Ichthyosis physiopathology
Ophthalmoplegia, Chronic Progressive External complications
Ophthalmoplegia, Chronic Progressive External genetics
Ophthalmoplegia, Chronic Progressive External pathology
Ophthalmoplegia, Chronic Progressive External physiopathology
X Chromosome
Subjects
Details
- Language :
- English
- ISSN :
- 1122-9497
- Volume :
- 30
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of submicroscopic cytology and pathology
- Publication Type :
- Academic Journal
- Accession number :
- 9851061