title: Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease.
authors.affiliation: 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
authors.forename: P
authors.initials: P
authors.lastname: Laforêt
authors.forename: P
authors.initials: P
authors.lastname: Charron
authors.forename: T
authors.initials: T
authors.lastname: Maisonobe
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
authors.forename: E
authors.initials: E
authors.lastname: Villard
authors.forename: P
authors.initials: P
authors.lastname: Sebillon
authors.forename: V
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: M
authors.initials: M
authors.lastname: Komajda
authors.forename: B
authors.initials: B
authors.lastname: Eymard
mesh_terms: 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
chemical_list: D018389:Codon, Nonsense; C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins