Article
[Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with an H43R mutation in Cu/Zn superoxide dismutase].
Rinsho shinkeigaku = Clinical neurology - 1 Aug 2003
Mochizuki Yoko, Mizutani Tomohiko, Nakano Ryoichi, Fukushima Takao, Honma Taku, Nemoto Norimichi, Takei Kazuo
Abstract excerpt
We report the clinical and neuropathological features of a Japanese family with familial amyotrophic lateral sclerosis (FALS), whose members have an amino acid substitution of histidine by arginine in Cu/Zn superoxide dismutase. A 58-year-old woman developed muscle weakness in the legs, and died of respiratory insufficiency 7 months after the onset of her weakness. Her family history included 7 patients with FALS...
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