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

Neurology

Volumn 63, Issue 8, 2004, Pages 1535-

  Laforet P ^a,d   Charron, P ^b   Maisonobe, T ^b   Romero, N B ^b   Villard, E ^c   Sebillon, P ^c   Drouin Garraud, V ^b   Dubourg, O ^d   Fardeau, M ^a   Komajda, M ^b   Eymard, B ^a  

^a Institute of Myology   (France)

^b Dept of Electrophysiol Invest ^*

^c Laboratory of Genetics   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DANON DISEASE; DISEASE ASSOCIATION; DISEASE SEVERITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MENTAL DEFICIENCY; MOTOR NERVE CONDUCTION; MUSCLE WEAKNESS; MYOPATHY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; RETINA MACULOPATHY; VISUAL IMPAIRMENT; X CHROMOSOME LINKED DISORDER;

EID: 7044269127     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000141858.80738.AA     Document Type: Article

References (5)

1. Danon MJ, Oh SJ, DiMauro S, et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology 1981;31:51-57.
2. 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.
3. Sugie K, Yamamoto A, Murayama K, et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002;58:1773-1778.
4. 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 Dis 2002;12:882-885.
5. Tanaka Y, Guhde G, Suter A, et al. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 2000;406:902-906.