| Dystrophin expression in Duchenne patients with "in-frame" gene deletions. | |
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MedLine Citation:
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PMID: 8327067 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystrophin in muscle biopsies showed variable dystrophin synthesis in all three patients. Two with relatively small deletions (missing exons 10-13 and 52-55) had low levels of dystrophin which were comparable to those found in many DMD patients. The third patient (with a larger deletion which removed exons 3-25) produced dystrophin in the high abundance which is normally associated with patients who have Becker muscular dystrophy. This is the first time that a patient has been described with the clinical phenotype of DMD, a large amount of dystrophin which was correctly localized at the periphery of muscle fibres and an in-frame deletion of exons in the amino terminal domain. |
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Authors:
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L V Nicholson; K M Bushby; M A Johnson; D Gardner-Medwin; I B Ginjaar |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuropediatrics Volume: 24 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1993-08-06 Completed Date: 1993-08-06 Revised Date: 2009-09-29 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: GERMANY |
Other Details:
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Languages: eng Pagination: 93-7 Citation Subset: IM |
Affiliation:
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Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Newcastle upon Tyne, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Biopsy Blotting, Western Child Child, Preschool Chromosomes, Human, Pair 21 Dystrophin / biosynthesis, genetics* Exons Gene Deletion* Gene Expression Humans Male Muscles / chemistry Muscular Dystrophies / diagnosis, genetics* Open Reading Frames* |
| Grant Support | |
ID/Acronym/Agency:
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//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/Dystrophin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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