Article
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
European journal of human genetics : EJHG - 1 May 2001
Hutchin T P, Navarro-Coy N C, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V, Mueller R F
Abstract excerpt
Several mtDNA mutations have been reported in families with both syndromic and non-syndromic hearing loss. One such mutation is the heteroplasmic 7472insC in the tRNA(Ser(UCN)) gene which has been found in six families, all from Western Europe. However, it was not clear if this distribution was due to a common founder effect or chance sampling of several unrelated families, the 7472insC mutation having occurred...
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