DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan

Neurology

Volumn 84, Issue 3, 2015, Pages 273-279

  Dong, Mingrui ^a,c   Noguchi, Satoru ^a,b   Endo, Yukari ^a,b   Hayashi, Yukiko K ^a,b,d   Yoshida, Shinobu ^e   Nonaka, Ikuya ^a   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^d TOKYO MEDICAL UNIVERSITY   (Japan)

^e Omihachiman Community Medical Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA DYSTROGLYCAN; COMPLEMENTARY DNA; CREATINE KINASE; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN; DYSTROPHIN; LAMININ;

ARTICLE; CASE REPORT; CELL ASSAY; CONGENITAL DISORDER OF GLYCOSYLATION; DYSTROGLYCANOPATHY; DYSTROPHIN ASSOCIATED GLYCOPROTEIN 1 GENE; ENZYME DEFECT; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GLYCOSYLATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCKEMIA; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PATHOGENESIS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; WESTERN BLOTTING; WILD TYPE; ADULT; COHORT ANALYSIS; COMPLICATION; FEMALE; GENETIC TRANSFECTION; GENETICS; METABOLIC DISORDER; METABOLISM; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION; PATHOLOGY; PROTEIN TRANSPORT; SKELETAL MUSCLE; TRANSFORMED CELL LINE;

ADULT; CELL LINE, TRANSFORMED; COHORT STUDIES; CREATINE KINASE; DYSTROGLYCANS; DYSTROPHIN; FEMALE; GENETIC ASSOCIATION STUDIES; GLYCOSYLATION; HUMANS; LAMININ; MALE; METABOLIC DISEASES; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; PROTEIN TRANSPORT; TRANSFECTION;

EID: 84925946372     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001162     Document Type: Article

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