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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
1995-12-8
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pubmed:databankReference |
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pubmed:abstractText |
beta-Sarcoglycan, a 43 kDa dystrophin-associated glycoprotein, is an integral component of the dystrophin-glycoprotein complex. We have cloned human beta-sarcoglycan cDNA and mapped the beta-sarcoglycan gene to chromosome 4q12. Pericentromeric markers and an intragenic polymorphic CA repeat cosegregated perfectly with autosomal recessive limb-girdle muscular dystrophy in several Amish families. A Thr-to-Arg missense mutation was identified within the beta-sarcoglycan gene that leads to a dramatically reduced expression of beta-sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin-glycoprotein complex. Thus, the beta-sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1061-4036
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
257-65
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7581448-Amino Acid Sequence,
pubmed-meshheading:7581448-Base Sequence,
pubmed-meshheading:7581448-Chromosome Mapping,
pubmed-meshheading:7581448-Chromosomes, Human, Pair 4,
pubmed-meshheading:7581448-Cloning, Molecular,
pubmed-meshheading:7581448-Cytoskeletal Proteins,
pubmed-meshheading:7581448-DNA, Complementary,
pubmed-meshheading:7581448-Dystroglycans,
pubmed-meshheading:7581448-Ethnic Groups,
pubmed-meshheading:7581448-Humans,
pubmed-meshheading:7581448-Indiana,
pubmed-meshheading:7581448-Membrane Glycoproteins,
pubmed-meshheading:7581448-Molecular Sequence Data,
pubmed-meshheading:7581448-Muscular Dystrophies,
pubmed-meshheading:7581448-Mutation,
pubmed-meshheading:7581448-Sarcoglycans,
pubmed-meshheading:7581448-Sarcolemma,
pubmed-meshheading:7581448-Tissue Distribution
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pubmed:year |
1995
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pubmed:articleTitle |
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
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pubmed:affiliation |
Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City 52242, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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