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

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

Abstract 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...

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Bibliographic Details
Main Authors: Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
deafness‐dystonia‐optic neuronopathy syndrome Mohr–Tranebjaerg syndrome
mitochondrial inner membrane
TIMM8A gene
X chromosome
Online Access:https://doi.org/10.1002/mgg3.1121

Internet

https://doi.org/10.1002/mgg3.1121

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