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Article

Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance.

Brazilian journal of otorhinolaryngology - 1 Jan 2000

Pupo Altair Cadrobbi, Pirana Sulene, Spinelli Mauro, Lezirovitz Karina, Netto Regina C Mingroni, Macedo Lisandra S

Abstract excerpt

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds...

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Identifiers

PMID: 19082364
DOI: 10.1016/S1808-8694(15)31392-6
PMCID: PMC9445942

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