TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Austin A LarsonPeter R BakerMiroslav P MilevCraig A PressRonald J SokolMary O CoxJacqueline K LekostajAaron A StenceAaron D BosslerJennifer M MuellerKeshika PrematilakeThierry Fotsing TadjoCharles A WilliamsMichael SacherSteven A MoorePublished in: Skeletal muscle (2018)
Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. This is the first report linking membrane trafficking proteins to dystroglycanopathy and suggests that these genes should be considered in the diagnostic evaluation of patients with congenital muscular dystrophy and dystroglycanopathy.