Document Detail

Audiological and radiological characteristics of a family with T961G mitochondrial mutation.
MedLine Citation:
PMID:  23013294     Owner:  NLM     Status:  Publisher    
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.
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:
Type:  JOURNAL ARTICLE     Date:  2012-9-27
Journal Detail:
Title:  International journal of audiology     Volume:  -     ISSN:  1708-8186     ISO Abbreviation:  Int J Audiol     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-9-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101140017     Medline TA:  Int J Audiol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
* Department of Sensory Systems, Policlinico Umberto I Hospital, Sapienza University , Rome , Italy.
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