Ptosis as a feature of late-onset glycogenosis type II.
Ravaglia
Sabrina
S
Repetto
Alessandra
A
De Filippi
Paola
P
Danesino
Cesare
C
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
D005087:Glucan 1,4-alpha-Glucosidase