Mohr-Tranebjaerg syndrome

Definition:

Mohr-Tranebjaerg syndrome is an X-linked recessive condition characterized by progressive postlingual sensorineural hearing impairment that begin in childhood associated by dystonia and optic atrophy. Mohr-Tranebjaerg syndrome is caused by mutations in the TIMM8A, a translocase of the inner mitochondrial membrane whose dysfunction leads to mitochondrial-based neural degeneration.

References:

[1]. Anthony T Cacace, et al. The mitochondrial connection in auditory neuropathy. Audiol Neurootol. 2011;16(6):398-413. [Content Brief]

[2]. Fayez Bahmad Jr, et al. Otopathology in Mohr-Tranebjaerg syndrome. Laryngoscope. 2007 Jul;117(7):1202-8. [Content Brief]

[3]. Luis A Aguirre, et al. A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes. Neuromuscul Disord. 2008 Dec;18(12):979-81. [Content Brief]

[4]. S N Merchant, et al. Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1). Otol Neurotol. 2001 Jul;22(4):506-11. [Content Brief]

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