Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Ezer S, Daana M, Park JH, Yanovsky-Dagan S, Nordström U, Basal A, Edvardson S, Saada A, Otto M, Meiner V, Marklund SL, Andersen PM, Harel T.