Article

Defining the cellular and molecular mechanism of maternally inherited hearing loss

2018-01-01

Abstract excerpt

Mitochondrial dysfunction causes moderate to profound hearing loss both in isolation and as a feature of multi-systemic mitochondrial disease. The m.1555A > G mitochondrial DNA (mtDNA) variant is associated with a predisposition to aminoglycoside ototoxicity and maternally inherited non-syndromic deafness. However, the reasons for the highly variable penetrance of the associated hearing loss have not yet been full...

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Literature Corpus work: 08478679-82ec-594a-99b0-bb85e1224d73
DOI: 10.17863/cam.17440

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