Article
Sensorineural deafness inherited as a tissue specific mitochondrial disorder.
Journal of medical genetics - 1 Feb 1992
Jaber L, Shohat M, Bu X, Fischel-Ghodsian N, Yang H Y, Wang S J, Rotter J I
Abstract excerpt
We present here a large Israeli-Arab kindred with hereditary deafness. In this family 55 deaf subjects (29M, 26F), who are otherwise healthy, have been identified and traced back five generations to one common female ancestor. The deafness is progressive in nature, usually presenting in infancy and childhood. Audiometry on six deaf and seven unaffected subjects was consistent with severe to profound sensorineural...
Topics
- Adult
- DNA, Mitochondrial
- Deafness
- Female
- Genes, Recessive
- Humans
- Israel
- Male
- Mitochondria
- Mutation
- Pedigree