Article
Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2021
Kuźma-Kozakiewicz Magdalena, Andersen Peter M, Elahi Elahe, Alavi Afagh, Sapp Peter C, Morita Mitsuya, Żekanowski Cezary, Berdyński Mariusz
Abstract excerpt
Mutations in SOD1 cause approximately 12-25% of familial ALS and ≈2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS pedigrees with...
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