Article
Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 May 2011
Conforti Francesca L, Barone Rita, Fermo Salvatore Lo, Giliberto Claudia, Patti Francesco, Gambardella Antonio, Quattrone Aldo, Zappia Mario
Abstract excerpt
Cu/Zn superoxide dismutase (SOD1) gene mutations have been reported in familial and sporadic amyotrophic lateral sclerosis (ALS). We report a novel G61R SOD1 mutation in a patient with a distinct phenotype including prominent lower motor neuron dysfunction, proximal weakness and atrophy with asymmetrical onset in the thigh and buttock and relentless clinical course. The G61R mutation segregated in three...
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