Mohr–Tranebjærg syndrome

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Mohr–Tranebjærg syndrome
Synonyms Deafness–dystonia–optic neuronopathy syndrome, Deafness–dystonia–optic atrophy syndrome, Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency
X-linked recessive.svg
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.

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References[edit]

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

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Classification
External resources