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Article

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.

Human molecular genetics - 20 Mar 2023

Chepurwar Shashank, von Loh Sarah M, Wigger Daniela C, Neef Jakob, Frommolt Peter, Beutner Dirk, Lang-Roth Ruth, Kubisch Christian, Strenzke Nicola, Volk Alexander E

Abstract excerpt

Auditory synaptopathy/neuropathy (AS/AN) is a distinct type of sensorineural hearing loss in which the cochlear sensitivity to sound (i.e. active cochlear amplification by outer hair cells) is preserved whereas sound encoding by inner hair cells and/or auditory nerve fibers is disrupted owing to genetic or environmental factors. Autosomal-dominant auditory neuropathy type 2 (AUNA2) was linked either to...

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PMID: 36300302
DOI: 10.1093/hmg/ddac267

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