Mohr–Tranebjærg syndrome
Mohr–Tranebjærg syndrome | |
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Synonyms | Deafness–dystonia–optic neuronopathy syndrome, Deafness–dystonia–optic atrophy syndrome, Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency |
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Mohr–Tranebjærg syndrome is inherited in an X-linked recessive manner |
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.
See also
References
External links
Classification | |
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External resources |
- 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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