Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

doi:10.3109/17482968.2011.600316

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Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Jan 2012

Berdyński Mariusz, Kuźma-Kozakiewicz Magdalena, Ricci Claudia, Kubiszewska Justyna, Millecamps Stéphanie, Salachas François, Łusakowska Anna, Carrera Paola, Meininger Vincent, Battistini Stefania, Kwieciński Hubert, Zekanowski Cezary

Abstract excerpt

Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely short survival time. The mutation has been initially detected in Italian ALS families with common founder effect. However, in the...

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PMID: 21877919
DOI: 10.3109/17482968.2011.600316

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SOD1

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