Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

Neurology. 2004 Oct 26;63(8):1535. doi: 10.1212/01.wnl.0000141858.80738.aa.

Authors

P Laforêt¹, P Charron, T Maisonobe, N B Romero, E Villard, P Sebillon, V Drouin-Garraud, O Dubourg, M Fardeau, M Komajda, B Eymard

Affiliation

¹ 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

PMID: 15505188
DOI: 10.1212/01.wnl.0000141858.80738.aa

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Charcot-Marie-Tooth Disease / genetics*
Charcot-Marie-Tooth Disease / pathology
Charcot-Marie-Tooth Disease / physiopathology
Codon, Nonsense / genetics
DNA Mutational Analysis
Diagnosis, Differential
Frameshift Mutation / genetics
Genetic Predisposition to Disease / genetics
Glycogen Storage Disease Type IIb / genetics*
Glycogen Storage Disease Type IIb / pathology
Glycogen Storage Disease Type IIb / physiopathology*
Humans
Lysosomal Membrane Proteins / genetics
Lysosomal-Associated Membrane Protein 2
Macular Degeneration / genetics*
Macular Degeneration / pathology
Macular Degeneration / physiopathology
Male
Muscle Fibers, Skeletal / pathology
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Muscular Diseases / genetics
Muscular Diseases / pathology
Muscular Diseases / physiopathology
Mutation / genetics
Peripheral Nerves / pathology
Peripheral Nerves / physiopathology

Substances

Codon, Nonsense
LAMP2 protein, human
Lysosomal-Associated Membrane Protein 2
Lysosomal Membrane Proteins