A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family

A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family

Abstract Background MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant nonsyndromic hearing loss. To date, only two missense variants located in the motor‐head domain of MYO3A have been described in autosomal dominant families with progressive, mil...

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Bibliographic Details
Main Authors: Julia Doll, Michaela A. H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias Müller, Marcus Dittrich, Thomas Haaf, Barbara Vona
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal dominant nonsyndromic hearing loss
MYO3A
myosin IIIA
progressive hearing loss
sensorineural hearing loss
Online Access:https://doi.org/10.1002/mgg3.1343

Internet

https://doi.org/10.1002/mgg3.1343

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