Extension of the clinical spectrum of Danon disease

Neurology

Volumn 70, Issue 16, 2008, Pages 1358-1359

  Van Der Kooi, A J ^a   Van Langen, I M ^a   Aronica, E ^a   Van Doorn, P A ^b   Wokke, J H J ^c   Brusse, E ^b   Langerhorst, C T ^a   Bergin, P ^d   Dekker, L R C ^a   Lekanne Dit Deprez, R H ^a   De Visser, M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

ARTICLE; CARDIOMYOPATHY; CLINICAL FEATURE; DANON DISEASE; GENE MUTATION; HUMAN; MENTAL DEFICIENCY; MYOPATHY; PRIORITY JOURNAL;

EID: 42249106388     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000309219.61785.b3     Document Type: Article

References (7)

1. Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000;406:906-910.
2. Sugie K, Yamamoto A, Murayama K, et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002;58:1773-1778.
3. Lacoste-Collin L, Garcia V, Uro-Coste E, et al. Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. Neuromuscul Disord 2002;12:882-885.
4. Musumeci O, Rodolico C, Nishino I, et al. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. Neuromuscul Disord 2005;15:409-411.
5. Nomenclature according to http://www.hgvs.org/mutnomen/
6. Laforet P, Charron P, Maisonobe T, et al. Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. Neurology 2004;63:1535.
7. Prall FR, Drack A, Taylor M, et al. Ophthalmic manifestations of Danon disease. Ophthalmology 2006;113:1010-1013.