Article
[Peculiarities of sporadic motor neuron disease associated with D90A and G12R mutations in Russian population].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2003
Skvortsova V I, Limborskaia S A, Slominskiĭ P A, Levitskiĭ G N, Levitskaia N I, Shadrina M I, Kondrat'eva E A, Brusov O S, Lysko A I, Karakhan V B, Alekhin A V, Serdiuk A V
Abstract excerpt
Fifty-one blood samples of Russian patients with sporadic motor neuron disease were examined for mutations in Cu/Zn superoxide dismutase (SOD-1) gene. One female patient with amyotrophic lateral sclerosis (ALS) was heterozygous for G12R mutation. This patient suffered from ALS with cervical cord onset, pyramidal variant and fast progression. Mutation was also detected in her healthy son. Earlier, such mutation...
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