New gene involved in Stormorken syndrome

February 26, 2019 | Past News

Stormorken syndrome is a rare genetic disorder characterized by muscle weakness and conditions of the eye, skin, spleen, and blood platelets. In a study published Dec. 21, 2018, in the journal Human Molecular Genetics, researchers from Jocelyn Laporte's team at the IGBMC (CNRS/Inserm/Unistra) identified a new gene involved in the disease and demonstrated that it is due to excessive calcium entry into tissues.