Mohr–Tranebjaerg syndrome

'Mohr–Tranebjaerg syndrome' can also refer to...

Mohr-Tranebjaerg Syndrome (Dystonia-Deafness Syndrome (DDS), Deafness-Dystonia-Optic Atrophy Syndrome, Mohr Syndrome, Mohr-Mageroy Syndrome, Optic Acoustic Nerve Atrophy with Dementia, Jensen Syndrome)

Mohr–Tranebjaerg syndrome


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A progressive form of deafness (dystonia–deafness syndrome) caused by mutation in the TIMM8A (DDP) gene, the product of which is involved in the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane (see general import pore). Mutation in the same gene causes Jensen's syndrome, in which the deafness is accompanied eventually by dementia.

Subjects: Medicine and Health.

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