title: Unusual features in a boy with the rapsyn N88K mutation.
authors.affiliation: Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.
authors.forename: G O
authors.initials: GO
authors.lastname: Skeie
authors.forename: H
authors.initials: H
authors.lastname: Aurlien
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.forename: G
authors.initials: G
authors.lastname: Norgârd
authors.forename: L A
authors.initials: LA
authors.lastname: Bindoff
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004172:Diplopia / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation
chemical_list: D009124:Muscle Proteins; C051609:peripheral membrane protein 43K