Article
Age dependent penetrance of three different superoxide dismutase 1 (sod 1) mutations.
The International journal of neuroscience - 1 Aug 2005
Aggarwal Arun, Nicholson Garth
Abstract excerpt
The age of onset of motor neuron disease in Cu/Zn superoxide dismutase 1 (SOD1) mutation carriers are variable, commencing at any time from the second decade. The authors performed a retrospective analysis of family information in pedigrees dating back to the 1780s, to determine the age-dependent penetrance of three different SOD1 mutations: Glu100Gly, Ile113Thr, and Val148G1y. The penetrance of symptomatic MND...
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