Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis.
Junpei KobayashiMasatoshi KurodaAkihiro KawataYoko MochizukiToshio MizutaniTakashi KomoriTakeshi IkeuchiReiji KoidePublished in: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases (2012)
We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.