Article
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.
American journal of human genetics - 1 Dec 1990
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S
Abstract excerpt
We studied several affected and one nonaffected individuals belonging to three unrelated pedigrees. The pathological trait was an autosomal dominant mitochondrial myopathy due to large-scale multiple deletions of the mitochondrial genome. Clinically, symptomatic patients had progressive external ophthalmoplegia, muscle weakness and wasting, sensorineural hypoacusia, and, in some cases, vestibular areflexia and...
Topics
- Adolescent
- Adult
- Base Sequence
- Blotting, Southern
- Cell Nucleus
- Chromosome Deletion
- Chromosomes, Human
- DNA Replication
- DNA, Mitochondrial
- Female
- Genes, Dominant