Primary LAMP-2 deficiency causes X-linked vacoular cardiomyopathy and myopathy (Danon disease)

Nature

Volumn 406, Issue 6798, 2000, Pages 906-910

  Nishino, Ichizo ^a,b   Fu, Jin ^a   Tanji, Kurenai ^a   Yamada, Takeshi ^c   Shimojo, Sadatomo ^d   Koori, Tateo ^e   Mora, Marina ^f   Riggs, Jack E ^g   Oh, Shin J ^h   Koga, Yasutoshi ⁱ   Sue, Carolyn M ^a   Yamamoto, Ayaka ^b   Murakami, Nobuyuki ^b   Shanske, Sara ^a   Byrne, Edward ^j   Bonilla, Eduardo ^a   Honaka, Ikuya ^b   DiMauro, Salvatora ^a   Hirano, Michlo ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e YOKOHAMA ROSAI HOSPITAL   (Japan)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g WEST VIRGINIA UNIVERSITY   (United States)

^h The University of Alabama at Birmingham   (United States)

ⁱ KURUME UNIVERSITY   (Japan)

^j ST VINCENT S HOSPITAL   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; HUMAN; IMMUNOHISTOCHEMISTRY; MOUSE; MUTATION; MYOPATHY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN STRUCTURE; X CHROMOSOME LINKED DISORDER;

ANTIGENS, CD; BLOTTING, WESTERN; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LINKAGE (GENETICS); LYSOSOMAL STORAGE DISEASES; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; SEQUENCE ANALYSIS, DNA; VACUOLES; X CHROMOSOME;

EID: 17044440789     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35022604     Document Type: Article

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