Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
rs1553652513
in
DAG1
gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
PMID 25934851
2015 Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.
PMID 25503980
2015 DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.
PMID 21388311
2011 A dystroglycan mutation associated with limb-girdle muscular dystrophy.