Mohr–Tranebjærg syndrome
Mohr–Tranebjærg syndrome (MTS) is a rare X-linked 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.
Mohr–Tranebjærg syndrome | |
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Other names | Deafness–dystonia–optic neuronopathy syndrome, Deafness–dystonia–optic atrophy syndrome, Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency |
Mohr–Tranebjærg syndrome is inherited in an X-linked recessive manner |
See also
- Mitochondrial disorders
- TIMM13 and TIMM8A
- Dystonia
References
- Mohr J, Mageroy K (1960). "Sex-linked deafness of a possibly new type". Acta Genet Stat Med. 10: 54–62. PMID 13771732.
External links
Classification | |
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External resources |
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- GeneReviews/NCBI/NIH/UW entry on Deafness–Dystonia–Optic Neuronopathy Syndrome
- MTS — a page at NIH website
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