Article
A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.
Neurology - 8 Apr 2003
Crimi M, Galbiati S, Perini M P, Bordoni A, Malferrari G, Sciacco M, Biunno I, Strazzer S, Moggio M, Bresolin N, Comi G P
Abstract excerpt
We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a...
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