Disease

Mohr-Tranebjaerg Syndrome

About the Disease
Mohr-Tranebjaerg Syndrome, also known as deafness-dystonia-optic neuronopathy syndrome, is related to dystonia and x-linked nonsyndromic deafness, and has symptoms including dystonia, muscle spasticity and tremor. An important gene associated with Mohr-Tranebjaerg Syndrome is TIMM8A (Translocase Of Inner Mitochondrial Membrane 8A), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include eye, brain and globus pallidus, and related phenotypes are optic atrophy and abnormality of visual evoked potentials

Common Targets
TIMM8A | ACTG1

疾病靶点研报
Mohr-Tranebjaerg Syndrome

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