Extension of the clinical spectrum of Danon disease.
van der Kooi
A J
AJ
Department of Neurology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam. a.j.kooi@amc.uva.nl
van Langen
I M
IM
Aronica
E
E
van Doorn
P A
PA
Wokke
J H J
JH
Brusse
E
E
Langerhorst
C T
CT
Bergin
P
P
Dekker
L R C
LR
dit Deprez
R H Lekanne
RH
de Visser
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins