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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A02 Dystonic disorders
H00989 Mohr-Tranebjaerg syndrome
Aguirre LA, Perez-Bas M, Villamar M, Lopez-Ariztegui MA, Moreno-Pelayo MA, Moreno F, del Castillo I
Title
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.
