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Three independent alleles in GTDC2 in our patientcohort
gtdc2 loss of function disrupts organization of theretina and the muscle• Retinal lamination defects are observed in gtdc2 morphant eyes• Both dystrophin and glycosylated dystroglycan are greatly reducedat the myosepta
Page 1 and 2: Exome sequencing and functional val
Page 3 and 4: Dystroglycanopathies are extremely
Page 5 and 6: Homozygosity mapping provides linka
Page 7 and 8: Homozygosity mapping in a dystrogly
Page 9 and 10: CONFIGURE SU PLEGADOR FL SERIES EN
Page 11 and 12: gtdc2 loss of function severely aff
Page 13 and 14: Human GTDC2 mRNA rescues the morpha
Page 15 and 16: B3GALNT2 is another new dystroglyca
Page 17 and 18: Chris WalshMuna Al SaffarBrenda Bar
Page 19 and 20: GTDC2 is expressed in the brain and
Page 21: gtdc2 mRNA is highly expressed in t
Page 25 and 26: Post-doctoral positions availableMa
Page 27 and 28: How do you approach a heterogeneous

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