Article
Comparison between PFN1 and SOD1 mutations in amyotrophic lateral sclerosis.
European journal of neurology - 1 Feb 2023
Corcia Philippe, Lejeune Pascal, Vourc'h Patrick, Beltran Stephane, Piegay Anne-Sophie, Blasco Helene, Meininger Vincent
Abstract excerpt
BACKGROUND: The objective of this study was to characterize the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations in profilin 1 (PFN1) and to determine clinical indications to test for mutations in this gene. MATERIAL AND METHODS: The phenotype of three relatives carrying the M114V PFN1 mutation are detailed here and are compared with those of patients with...
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