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  • Title: [Audiologic evaluation in a family showing diabetes mellitus and deafness associated with a mutation in mitochondrial DNA].
    Author: Tamagawa Y, Tanaka H, Hagiwara H, Ishida T, Kitamura K.
    Journal: Nihon Jibiinkoka Gakkai Kaiho; 1995 Aug; 98(8):1257-62. PubMed ID: 7472762.
    Abstract:
    An A to G transition at nucleotide 3,243 in the tRNA(Leu)(UUR) gene of mitochondrial DNA has recently been identified as a pathogenic point mutation which is associated with diabetes mellitus and sensorineural deafness in several pedigrees. We have also reported a family showing the association of deafness and diabetes mellitus as the predominant clinical features with this mutation. Audiologic data from two patients in this family are presented. Both had a bilaterally symmetrical sensorineural hearing loss at all frequencies. As is often the case with deafness associated with a mitochondrial disorder, the pure-tone threshold values were maximal at high frequencies in both patients. The audiologic work-up presented not only cochlear characteristics but also signs suggestive of retrocochlear disturbance with poor speech discrimination scores as compared to pure-tone thresholds, although auditory brain-stem responses showed neither wave delay nor prolonged interpeak latencies.
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