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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 |
1992-4-2
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pubmed:abstractText |
A Duchenne muscular dystrophy patient who displayed near-normal dystrophin staining at the sarcolemma with N-terminal, but not with C-terminal, anti-dystrophin monoclonal antibodies was found to have a frameshift deletion of exons 42 and 43. This deletion introduces an early termination codon, and a 225-kD protein was detected by western blotting with N-terminal antibodies only. The results suggest that an N-terminal truncated dystrophin fragment encoded by exon 1-41 is able to associate with the muscle cell membrane. The current idea that the C-terminal domains of dystrophin are important or essential for its integration with the sarcolemma may have to be reexamined in the light of these observations.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-1692289,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-1699095,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-1699800,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-1709683,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-1979364,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-1990838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2014247,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2033400,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2063877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2071150,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2189068,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2205076,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2250176,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2404210,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2407739,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2478851,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2491009,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2648158,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2658593,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2662404,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-2693618,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-3169738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-3282674,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-3319190,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1539591-3384440
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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 |
Mar
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
508-14
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pubmed:dateRevised |
2010-9-7
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pubmed:meshHeading |
pubmed-meshheading:1539591-Amino Acid Sequence,
pubmed-meshheading:1539591-Antibodies, Monoclonal,
pubmed-meshheading:1539591-Blotting, Western,
pubmed-meshheading:1539591-Child, Preschool,
pubmed-meshheading:1539591-Chromosome Deletion,
pubmed-meshheading:1539591-Dystrophin,
pubmed-meshheading:1539591-Frameshift Mutation,
pubmed-meshheading:1539591-Humans,
pubmed-meshheading:1539591-Immunohistochemistry,
pubmed-meshheading:1539591-Male,
pubmed-meshheading:1539591-Molecular Sequence Data,
pubmed-meshheading:1539591-Muscular Dystrophies,
pubmed-meshheading:1539591-Sarcolemma
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pubmed:year |
1992
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pubmed:articleTitle |
A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane.
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pubmed:affiliation |
University Department of Pathology, Royal Liverpool Hospital, United Kingdom.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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