A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease

Muscle and Nerve

Volumn 41, Issue 6, 2010, Pages 879-882

  Kim, Hunmin ^a   Cho, Anna ^a   Lim, Byung Chan ^a   Kim, Min Jung ^a   Kim, Ki Joong ^a   Nishino, Ichizo ^b   Hwang, Yong Seung ^a   Chae, Jong Hee ^a  

^a Seoul National University College of Medicine   (South Korea)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Autophagic vacuole; Cardiomyopathy; Danon disease; Female; LAMP 2

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

ADOLESCENT; ARTICLE; AUTOPHAGY; CARDIOMYOPATHY; CASE REPORT; DANON DISEASE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAM; FEMALE; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; IMMUNOHISTOCHEMISTRY; MUSCLE BIOPSY; MYOPATHY; PRIORITY JOURNAL; SKELETAL MUSCLE; WESTERN BLOTTING; WOLFF PARKINSON WHITE SYNDROME;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; CARDIOMYOPATHY, HYPERTROPHIC; FEMALE; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUTATION; REFERENCE VALUES; VACUOLES;

EID: 77953057020     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21614     Document Type: Article

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