Associated Papers
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H et al.
Bmc Medical Genetics, 2019
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Ha AD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
Blesa JR et al.
Neuromolecular Medicine, 2007
Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
Tranebjaerg L et al.
Ophthalmic Genetics, 2001
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