Mohr–Tranebjærg syndrome
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| Mohr–Tranebjærg syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 304700 |
| Patient UK | Mohr–Tranebjærg syndrome |
Mohr–Tranebjærg syndrome (MTS) is a rare X-liked recessive syndrome also known as Deafness-dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960.[1] The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration.
Alternative names
- Deafness-dystonia-optic neuronopathy syndrome, DDS
- Deafness-dystonia-optic atrophy syndrome, DDP
- Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency
See also
References
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External links
- The Deafness Dystonia Protein DDP and Mitochondrial Division — a free videolecture by Craig Blackstone touching on the genetics of the disorder, 2002.
- GeneReviews/NCBI/NIH/UW entry on Deafness-Dystonia-Optic Neuronopathy Syndrome
- MTS — a page at NIH website
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