Abstract
Mohr Tranebjaerg syndrome (MIM 304700) is clinically well characterized and shown to be due to frameshift/stop mutations in the DDP gene (Tranebjaerg L et al, J Med Genet 32; 257-263, 1995; Jin H et al, Nat Genet 14; 177-180, 1996). We present the updated spectrum of mutations in the 7 families recognized from Norway, USA, Spain, Denmark, Australia and the Netherlands each having a private DDP mutation. Recently, a DDP homologue (TIM 8) in yeast was shown to be involved in mitochondrial membrane protein transport (Koehler C et al, PNAS; 99: 2141-6, 1999) which implies that human deafness-dystonia syndrome is likely to be a mitochondrial dysfunction associated with neurodegenerative disease. We present clinical neuropathological and biochemical evidence supporting that this human deafness-optic atrophy-dystonia syndrome is caused by mitochondrial dysfunction.
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Tranebjaerg, L., Lindal, S., Merchant, S. et al. Mohr-Tranebjaerg Syndrome is an X-linked Recessive Disorder Characterized by Mitochondrial Dysfunction Associated with Neuronal Cell Death. Genet Med 2, 107 (2000). https://doi.org/10.1097/00125817-200001000-00206
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DOI: https://doi.org/10.1097/00125817-200001000-00206