Article
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy.
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases - 1 Sept 2003
Rezania Kourosh, Yan Jianhua, Dellefave Lisa, Deng Han-Xiang, Siddique Nailah, Pascuzzi Robert T, Siddique Teepu, Roos Raymond P
Abstract excerpt
We present three members of a pedigree with familial amyotrophic lateral sclerosis (FALS) who have a rare mutation in exon 4 of Cu/Zn superoxide dismutase (SOD1) codon position 89, converting alanine to valine. This mutation was associated with incomplete penetrance and variable age of onset. The...
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