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Title: D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
Authors: Robberecht, Wim ×
Aguirre, Tania
Van Den Bosch, Ludo
Tilkin, Petra
Cassiman, Jean-Jacques
Matthijs, Gert #
Issue Date: Dec-1996
Series Title: Neurology. vol:47 issue:5 pages:1336-9
Abstract: All mutations in the SOD1 gene associated with familial ALS behave as dominant traits. One mutation, however, giving rise to an aspartic acid to alanine substitution in codon 90 (D90A), was reported only to induce motor neuron disease in homozygous individuals in the Scandinavian population. We describe two families with ALS and one apparently sporadic ALS patient who are heterozygous for the D90A mutation. One patient had the unusual phenotype of focal nonprogressing motor neuron disease.
ISSN: 0028-3878
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Human Mutations and Polymorphisms Section (-)
Clinical Genetics Section (-)
Laboratory for Neurobiology (Vesalius Research Center)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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