title: Ptosis as a feature of late-onset glycogenosis type II.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Ravaglia
authors.forename: Alessandra
authors.initials: A
authors.lastname: Repetto
authors.forename: Paola
authors.initials: P
authors.lastname: De Filippi
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
mesh_terms: D001763:Blepharoptosis / Q000209:etiology*; D005221:Fatigue / Q000209:etiology; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency / Q000235:genetics; D006009:Glycogen Storage Disease Type II / Q000150:complications*; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D005087:Glucan 1,4-alpha-Glucosidase