Unusual features in a boy with the rapsyn N88K mutation.
Skeie
G O
GO
Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway.
Aurlien
H
H
Müller
J S
JS
Lochmüller
H
H
Norgârd
G
G
Bindoff
L A
LA
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
D009124:Muscle Proteins; C051609:peripheral membrane protein 43K