TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex

We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex.
Source: NeuroMolecular Medicine - Category: Neurology Source Type: research