Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

BACKGROUND: The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, early‐onset deafness, and various other neurological manifes...

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Detalles Bibliográficos
Autores principales: Neighbors, Addison, Moss, Tonya, Holloway, Lynda, Yu, Seok‐Ho, Annese, Fran, Skinner, Steve, Saneto, Russell, Steet, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057109/
https://www.ncbi.nlm.nih.gov/pubmed/31903733
http://dx.doi.org/10.1002/mgg3.1121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057109/
https://www.ncbi.nlm.nih.gov/pubmed/31903733
http://dx.doi.org/10.1002/mgg3.1121

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