Mohr–Tranebjærg syndrome

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.

Contents

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

  1. ^ MOHR J, MAGEROY K (1960). "Sex-linked deafness of a possibly new type". Acta Genet Stat Med 10: 54–62. PMID 13771732. 

External links


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