Novel LAMP-2 mutation in a family with danon disease presenting with hypertrophic cardiomyopathy

Circulation Journal

Volumn 73, Issue 2, 2009, Pages 376-380

  Dougu, Nobuhiro ^a,d   Joho, Shuji ^b,c,d   Shan, Lishen ^b,c   Shida, Takuya ^b   Matsuki, Akira ^b   Uese, Keiichiro ^c   Hirono, Keiichi ^c   Ichida, Fukiko ^c   Tanaka, Kortaro ^a   Nishino, Ichizo ^d   Inoue, Hiroshi ^b  

^a Department of Neurology ^*  (Japan)

^b Second Department of Internal Medicine   (Japan)

^c TOYAMA UNIVERSITY HOSPITAL   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Cardiomyopathy; Genetics; Heart failure

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; DNA; FRUCTOSE BISPHOSPHATE ALDOLASE; LACTATE DEHYDROGENASE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

ADOLESCENT; ANAMNESIS; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DANON DISEASE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DNA DETERMINATION; ENZYME ACTIVITY; EXON; FABRY DISEASE; FRAMESHIFT MUTATION; GENE FUNCTION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE; HEART DILATATION; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; LABORATORY TEST; MALE; MUSCLE BIOPSY; PHYSICAL EXAMINATION;

ADOLESCENT; CARDIOMYOPATHY, HYPERTROPHIC; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FRAMESHIFT MUTATION; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; PEDIGREE;

EID: 59449098330     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-08-0241     Document Type: Article

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