Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
rs267607209
in
LARGE1
gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
PMID 19067344
2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
PMID 19299310
2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PMID 24709677
2014 Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.