Condition: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
rs550944082
in
POGLUT1
gene and
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21
PMID 27807076
2016 A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.