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Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS
Author(s) -
Beck Marcus,
Sendtner Michael,
Toyka Klaus V.
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20756
Subject(s) - sod1 , amyotrophic lateral sclerosis , mutation , genetics , phenotype , gene , biology , disease , medicine , pathology
Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the SOD1 gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the SOD1 gene results in an amino acid substitution of lysine for asparagine at position 86 (N86K) of the SOD1 protein. The family history suggested that this autosomal dominantly inherited mutation may be associated with rapidly progressive disease. Muscle Nerve, 2007