Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule
The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the stability of muscle‐fiber membranes. In 1988, Monaco and colleagues postulated an explanation for the phenotypic difference b...
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| Veröffentlicht in: | Muscle & nerve 2006-08, Vol.34 (2), p.135-144 |
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| container_title | Muscle & nerve |
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| creator | Aartsma-Rus, Annemieke Van Deutekom, Judith C. T. Fokkema, Ivo F. Van Ommen, Gert-Jan B. Den Dunnen, Johan T. |
| description | The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the stability of muscle‐fiber membranes. In 1988, Monaco and colleagues postulated an explanation for the phenotypic difference between Duchenne and Becker patients in the reading‐frame rule: In Duchenne patients, mutations induce a shift in the reading frame leading to prematurely truncated, dysfunctional dystrophins. In Becker patients, in‐frame mutations allow the synthesis of internally deleted, but largely functional dystrophins. Currently, over 4700 mutations have been reported in the Leiden DMD mutation database, of which 91% are in agreement with this rule. In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype–phenotype correlations and mutations that appear to be exceptions to the reading‐frame rule. Muscle Nerve, 2006 |
| doi_str_mv | 10.1002/mus.20586 |
| format | Article |
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In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype–phenotype correlations and mutations that appear to be exceptions to the reading‐frame rule. Muscle Nerve, 2006</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.20586</identifier><identifier>PMID: 16770791</identifier><identifier>CODEN: MUNEDE</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Becker muscular dystrophy ; Biological and medical sciences ; Carbohydrates (enzymatic deficiencies). Glycogenosis ; Databases, Genetic ; Diseases of striated muscles. Neuromuscular diseases ; Duchenne muscular dystrophy ; dystrophin ; Errors of metabolism ; Gene Frequency ; Germany ; Humans ; Medical sciences ; Metabolic diseases ; Muscular Dystrophy, Duchenne - genetics ; mutation ; Mutation - genetics ; Neurology ; Phenotype ; reading frame ; Reading Frames - genetics</subject><ispartof>Muscle & nerve, 2006-08, Vol.34 (2), p.135-144</ispartof><rights>Copyright © 2006 Wiley Periodicals, Inc.</rights><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3916-d269b57d4c54de8f32c2dcc8cb71a74eb87d07e02c5f450748c5667ba5f4d9663</citedby><cites>FETCH-LOGICAL-c3916-d269b57d4c54de8f32c2dcc8cb71a74eb87d07e02c5f450748c5667ba5f4d9663</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.20586$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.20586$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17997482$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16770791$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aartsma-Rus, Annemieke</creatorcontrib><creatorcontrib>Van Deutekom, Judith C. T.</creatorcontrib><creatorcontrib>Fokkema, Ivo F.</creatorcontrib><creatorcontrib>Van Ommen, Gert-Jan B.</creatorcontrib><creatorcontrib>Den Dunnen, Johan T.</creatorcontrib><title>Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the stability of muscle‐fiber membranes. In 1988, Monaco and colleagues postulated an explanation for the phenotypic difference between Duchenne and Becker patients in the reading‐frame rule: In Duchenne patients, mutations induce a shift in the reading frame leading to prematurely truncated, dysfunctional dystrophins. In Becker patients, in‐frame mutations allow the synthesis of internally deleted, but largely functional dystrophins. Currently, over 4700 mutations have been reported in the Leiden DMD mutation database, of which 91% are in agreement with this rule. In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype–phenotype correlations and mutations that appear to be exceptions to the reading‐frame rule. Muscle Nerve, 2006</description><subject>Becker muscular dystrophy</subject><subject>Biological and medical sciences</subject><subject>Carbohydrates (enzymatic deficiencies). Glycogenosis</subject><subject>Databases, Genetic</subject><subject>Diseases of striated muscles. 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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Becker muscular dystrophy Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Databases, Genetic Diseases of striated muscles. Neuromuscular diseases Duchenne muscular dystrophy dystrophin Errors of metabolism Gene Frequency Germany Humans Medical sciences Metabolic diseases Muscular Dystrophy, Duchenne - genetics mutation Mutation - genetics Neurology Phenotype reading frame Reading Frames - genetics |
| title | Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule |
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