A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling.  In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in POGLUT1 (protein O-glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. 
POGLUT1
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling.  Muscles from patients revealed decreased Notch signaling, dramatic reduction in satellite cell pool and a muscle-specific α-dystroglycan hypoglycosylation not present in patients' fibroblasts.  A robust rescue of the myogenesis was demonstrated by increasing Notch signaling. 
Notch signaling
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. 
satellite cell loss