Identification of a Novel LAMP2 Mutation Responsible for X-Chromosomal Dominant Danon Disease

Neuropediatrics

Volumn 34, Issue 5, 2003, Pages 270-273

  Horvath J ^a   Ketelsen, U P ^a   Geibel Zehender, A ^a   Boehm, N ^a   Olbrich, H ^a   Korinthenberg, R ^a   Omran, Heymut ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Danon disease; Glycogen storage disease type IIb; LAMP2

Indexed keywords

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHROMOSOME XQ; DANON DISEASE; EXON; FEMALE; GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HEART TRANSPLANTATION; HUMAN; LAMP2 GENE; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE WEAKNESS; PRIORITY JOURNAL; X CHROMOSOME DOMINANT DISORDER;

ADULT; ANTIGENS, CD; CARDIOMYOPATHIES; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HEART TRANSPLANTATION; HUMANS; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MUSCLE, SKELETAL; MUSCLE, SMOOTH; POINT MUTATION;

EID: 0242467995     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-43262     Document Type: Article

References (10)

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