Danon disease with typical early-onset cardiomyopathy in a male: Focus on a novel LAMP-2 mutation

Pediatric Transplantation

Volumn 12, Issue 2, 2008, Pages 246-250

  Bui, Yen K ^a   Renella, Pierangelo ^b   Martinez Agosto, Julian A ^c   Verity, Anthony ^c   Madikians, Andranik ^b   Alejos, Juan C ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b MATTEL CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cardiomyopathy; Lysosomal storage disease; Myopathy; Orthotopic heart transplantation

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; OKT 3; STEROID;

5' UNTRANSLATED REGION; ADOLESCENT; ARTICLE; AUTOPHAGY; CARDIOMYOPATHY; CASE REPORT; CELL VACUOLE; CLINICAL FEATURE; DANON DISEASE; DISEASE SEVERITY; DNA DETERMINATION; ELECTROCARDIOGRAM; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GRAFT REJECTION; HEART LEFT VENTRICLE HYPERTROPHY; HEMIZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTRON; LAMP 2 GENE; LYSOSOME STORAGE DISEASE; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; RARE DISEASE; RESPIRATORY FAILURE; RETINA DISEASE; SARCOLEMMA; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CARDIOMYOPATHIES; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MUTATION;

EID: 40149096842     PISSN: 13973142     EISSN: 13993046     Source Type: Journal    
DOI: 10.1111/j.1399-3046.2007.00874.x     Document Type: Article

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