Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.
Laforêt
P
P
Institut de Myologie, Bâtiment Babinski, Groupe hospitalier Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75113 Paris Cedex, France. pascal.laforet@psl.ap-hop-paris.fr
Charron
P
P
Maisonobe
T
T
Romero
N B
NB
Villard
E
E
Sebillon
P
P
Drouin-Garraud
V
V
Dubourg
O
O
Fardeau
M
M
Komajda
M
M
Eymard
B
B
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D016368:Frameshift Mutation / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology
D018389:Codon, Nonsense; C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins