Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

American Journal of Pathology

Volumn 164, Issue 2, 2004, Pages 727-737

  Brown, Susan C ^a   Torelli, Silvia ^a   Brockington, Martin ^a   Yuva, Yeliz ^a   Jimenez, Cecilia ^a   Feng, Lucy ^a   Anderson, Louise ^b   Ugo, Isabella ^a   Kroger, Stephan ^e   Bushby, Kate ^b   Voit, Thomas ^d   Sewry, Caroline ^a,c   Muntoni, Francesco ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b Dept of Biochemistry and Genetics ^*  (United Kingdom)

^c ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FUKUTIN RELATED PROTEIN; GENE PRODUCT; ISOLEUCINE; LEUCINE; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; DAG1 PROTEIN, HUMAN; DYSTROGLYCAN; FKRP PROTEIN, HUMAN; MEMBRANE PROTEIN; PROTEIN;

ANTIBODY LABELING; ARTICLE; CONGENITAL MUSCULAR DYSTROPHY TYPE 1C; CONGENITAL MUSCULAR DYSTROPHY TYPE 2I; CORRELATION ANALYSIS; FETUS; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; INDIVIDUALIZATION; LGMD2I GENE; MDC1C GENE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; NONSENSE MUTATION; NULL ALLELE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE MUSCULAR ATROPHY; PROTEIN DEFECT; PROTEIN EXPRESSION; SARCOLEMMA; ADULT; BIOSYNTHESIS; CHILD; COMPARATIVE STUDY; GENETICS; IMMUNOHISTOCHEMISTRY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; CHILD; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; FETUS; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 1542379704     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63160-4     Document Type: Article

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