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 A1555G mutation in the mitochondrial 12S ribosomal RNA gene [Prezant et al., 1993: Nat Genet 4:289-294]. Family members...
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