Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): A case with a novel Lamp-2 gene mutation

Neuromuscular Disorders

Volumn 12, Issue 9, 2002, Pages 882-885

  Lacoste Collin, Laetitia ^a   Garcia, Virginie ^b   Uro Coste, Emmanuelle ^a,b   Arné Bes, Marie Christine ^a   Durand, Dominique ^a   Levade, Thierry ^b   Delisle, Marie Bernadette ^a,b  

^a CHU RANGUEIL   (France)

^b INSERM   (France)

Author keywords

Danon's disease; LAMP 2 deficiency; Lamp 2 gene mutation

Indexed keywords

LYSOSOME ENZYME;

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; EXON; GENE MUTATION; HEART TRANSPLANTATION; HUMAN; LYSOSOME MEMBRANE; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SKIN FIBROBLAST; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER; X LINKED VACUOLAR CARDIOMYOPATHY;

ADULT; ANTIGENS, CD; BASE SEQUENCE; BIOPSY; BLOTTING, WESTERN; CARDIOMYOPATHIES; CHROMOSOMES, HUMAN, X; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EXONS; FIBROBLASTS; FRANCE; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MUSCULAR DISEASES;

EID: 0036837231     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00179-7     Document Type: Article

References (10)

1. Lysosomal glycogen storage disease with normal acid maltase
2. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
3. Infantile autophagic vacuolar myopathy is distinct from Danon disease
4. Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant
5. Lysosomal glycogen storage disease without acid maltase deficiency
6. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy
7. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head
8. Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report
9. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
10. The genes of major lysosomal membrane glycoproteins, Lamp-1 and Lamp-2