Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)

Neurogenetics

Volumn 1, Issue 1, 1997, Pages 49-58

  Duggan, David J ^a   Manchester, David ^b   Stears, Karen P ^b   Mathews, Dennis J ^b   Hart, Carolyn ^c   Hoffman, Eric P ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL   (United States)

^c Pediatric Neurology   (United States)

Author keywords

Dystrophin associated; Immunofluorescence; Limb girdle muscular dystrophy; Membrane cytoskeleton; Sarcoglycan complex; sarcoglycan

Indexed keywords

CYTOSKELETON PROTEIN; DYSTROPHIN; MEMBRANE PROTEIN; MICROSATELLITE DNA; SARCOGLYCAN;

ARTICLE; CHEMISTRY; CHROMOSOME 5; FLUORESCENT ANTIBODY TECHNIQUE; FOLLOW UP; GENETICS; HUMAN; METABOLISM; MUSCULAR DYSTROPHY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PROTEIN SECONDARY STRUCTURE; RECESSIVE GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE;

CHROMOSOMES, HUMAN, PAIR 5; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FLUORESCENT ANTIBODY TECHNIQUE; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMANS; MEMBRANE GLYCOPROTEINS; MICROSATELLITE REPEATS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SARCOGLYCANS;

EID: 0031128814     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050008     Document Type: Article

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