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  • Title: Audiological and radiological characteristics of a family with T961G mitochondrial mutation.
    Author: Turchetta R, Mazzei F, Celani T, Cammeresi MG, Orlando MP, Altissimi G, de Vincentiis C, D'Ambrosio F, Messineo D, Ferraris A, Cianfrone G.
    Journal: Int J Audiol; 2012 Dec; 51(12):870-9. PubMed ID: 23013294.
    Abstract:
    OBJECTIVE: The aim of this study was to describe audiological and radiological characteristics, and other secondary aspects, in a family carrying a T961G mutation in the 12S rRNA mitochondrial gene. DESIGN: Case report. STUDY SAMPLE: Six members of a family participated in an audiological evaluation that included pure-tone audiometry, immittance tests, auditory brainstem responses (ABR), and otoacoustic emissions (OAE). The radiological evaluation was conducted through temporal bone CT scans using a Toshiba 16 channels Aquilon Spirale. Neuropsychiatric evaluation was also administered. RESULTS: Three participants were diagnosed with severe sensorineural hearing loss of cochlear origin and cochlear malformations visible in CT scans. One participant had a mild mixed-hearing loss and no cochlear malformations. Two participants had normal audiological and radiological findings. CONCLUSIONS: We believe our study can provide helpful insight on the clinical findings of a rare mutation, of which few data have been presented in literature.
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