Article
Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.
American journal of medical genetics - 5 Jun 1998
Bykhovskaya Y, Shohat M, Ehrenman K, Johnson D, Hamon M, Cantor R M, Aouizerat B, Bu X, Rotter J I, Jaber L, Fischel-Ghodsian N
Abstract excerpt
The relationship between mitochondrial genotype and clinical phenotype is complicated in most instances by the heteroplasmic nature of pathogenic mitochondrial mutations. We have previously shown that maternally inherited hearing loss in a large Arab-Israeli kindred is due to the homoplasmic A155...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 13
- DNA, Mitochondrial
- Deafness
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Lod Score
- Male
- Mitochondria
- Mutation
- Pedigree