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Mohr–Tranebjærg syndrome

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Mohr–Tranebjærg syndrome

Mohr–Tranebjærg syndrome
Classification and external resources
OMIM 304700

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

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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