| Audiological and radiological characteristics of a family with T961G mitochondrial mutation. | |
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MedLine Citation:
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PMID: 23013294 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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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Authors:
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Rosaria Turchetta; Filippo Mazzei; Tiziana Celani; Maria Gloria Cammeresi; Maria Patrizia Orlando; Giancarlo Altissimi; Chiara de Vincentiis; Ferdinando D'Ambrosio; Daniela Messineo; Alessandro Ferraris; Giancarlo Cianfrone |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-9-27 |
Journal Detail:
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Title: International journal of audiology Volume: - ISSN: 1708-8186 ISO Abbreviation: Int J Audiol Publication Date: 2012 Sep |
Date Detail:
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Created Date: 2012-9-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101140017 Medline TA: Int J Audiol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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* Department of Sensory Systems, Policlinico Umberto I Hospital, Sapienza University , Rome , Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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