An international consortium of researchers reviews an ultra-rare form of muscular glycogen storage disease linked to the GYS1 gene encoding glycogen synthase:
- clinical and biological data from eight new patients with this myopathy were collected and added to those from the update of two previously published cases from the same family,
- pathogenic variants were distributed throughout the GYS1 gene,
- the cardiac phenotype (sudden death, in particular) remains the most common in 7 out of 10 cases,
- however, it appears that some patients survive into adulthood with a much less severe and less progressive clinical presentation.
This work contributes greatly to establishing the natural history of the disease in this rare form of muscular glycogen storage disease.
