Article
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Brain : a journal of neurology - 29 Apr 2022
Ezer Shlomit, Daana Muhannad, Park Julien H, Yanovsky-Dagan Shira, Nordström Ulrika, Basal Adily, Edvardson Simon, Saada Ann, Otto Markus, Meiner Vardiella, Marklund Stefan L, Andersen Peter Munch, Harel Tamar
Abstract excerpt
Pathogenic variants in SOD1, encoding superoxide dismutase 1, are responsible for about 20% of all familial amyotrophic lateral sclerosis cases, through a gain-of-function mechanism. Recently, two reports showed that a specific homozygous SOD1 loss-of-function variant is associated with an infantile progressive motor-neurological syndrome. Exome sequencing followed by molecular studies, including cDNA analysis,...
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