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References

These sources were used to develop the Genetics Home Reference condition summary on deafness-dystonia-optic neuronopathy syndrome.

Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L. Otopathology in Mohr-Tranebjaerg syndrome. Laryngoscope. 2007 Jul;117(7):1202-8. PubMed citation
Binder J, Hofmann S, Kreisel S, Wöhrle JC, Bäzner H, Krauss JK, Hennerici MG, Bauer MF. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain. 2003 Aug;126(Pt 8):1814-20. Epub 2003 Jun 4. Review. PubMed citation
Gene Review: Deafness-Dystonia-Optic Neuronopathy Syndrome
OMIM: MOHR-TRANEBJAERG SYNDROME
Roesch K, Curran SP, Tranebjaerg L, Koehler CM. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002 Mar 1;11(5):477-86. PubMed citation
Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet. 1995 Apr;32(4):257-63. PubMed citation

Reviewed: September 2008

Published: May 20, 2013