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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Autori principali:	Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2020-03-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	deafness‐dystonia‐optic neuronopathy syndrome Mohr–Tranebjaerg syndrome mitochondrial inner membrane TIMM8A gene X chromosome
Accesso online:	https://doi.org/10.1002/mgg3.1121
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