Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

@article{Tranebjaerg2001NeuronalCD,
  title={Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.},
  author={Lisbeth Tranebjaerg and Peter Koch Jensen and Marijke Van Ghelue and Cindy L. Vnencak-Jones and Staale Sund and Kjell Elgjo and J. Jakobsen and Sigurd Lindal and Mette Warburg and Anders Fuglsang-Frederiksen and Kari Skullerud},
  journal={Ophthalmic genetics},
  year={2001},
  volume={22 4},
  pages={207-23}
}
The Mohr-Tranebjaerg syndrome (MIM 304700) and the Jensen syndrome (MIM 311150) were previously reported as separate X-linked recessive deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. In the most extensively studied Norwegian family, the Mohr-Tranebjaerg syndrome was reported to be caused by a one-basepair deletion (151delT) in the deafness/dystonia peptide (DDP) gene at Xq22. This gene has been renamed TIMM8a. We… CONTINUE READING
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