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

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, mild‐to‐pro...

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Detalles Bibliográficos
Autores principales: Doll, Julia, Hofrichter, Michaela A. H., Bahena, Paulina, Heihoff, Alfred, Segebarth, Dennis, Müller, Tobias, Dittrich, Marcus, Haaf, Thomas, Vona, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434730/
https://www.ncbi.nlm.nih.gov/pubmed/32519820
http://dx.doi.org/10.1002/mgg3.1343

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434730/
https://www.ncbi.nlm.nih.gov/pubmed/32519820
http://dx.doi.org/10.1002/mgg3.1343

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