Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing...
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| Veröffentlicht in: | Journal of the neurological sciences 1993-10, Vol.119 (1), p.38-42 |
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| container_title | Journal of the neurological sciences |
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| creator | Vainzof, Mariz Passos-Bueno, Maria Rita Takata, Reinaldo I. Pavanello, Rita de Cassia M. Zatz, Mayana |
| description | In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD. No DNA deletion was detected in both patients. Dystrophin analysis through immunofluorescence and western blotting showed a negative pattern in the youngest patient and a positive one in the oldest. Apparently, this is the first report on intrafamilial variability in dystrophin abundance correlated with a difference in the severity of the phenotype. |
| doi_str_mv | 10.1016/0022-510X(93)90189-6 |
| format | Article |
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We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD. No DNA deletion was detected in both patients. Dystrophin analysis through immunofluorescence and western blotting showed a negative pattern in the youngest patient and a positive one in the oldest. 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Neuromuscular diseases ; DNA - analysis ; Duchenne dystrophy ; Dystrophin ; Dystrophin - chemistry ; Dystrophin - genetics ; Dystrophin - metabolism ; Family ; Female ; Fluorescent Antibody Technique ; Humans ; Immunohistochemistry ; Intrafamilial variability ; Male ; Medical sciences ; Membrane Proteins ; Muscles - chemistry ; Muscles - pathology ; Muscular Dystrophies - genetics ; Muscular Dystrophies - metabolism ; Neurology ; Phenotype ; Polymerase Chain Reaction ; Utrophin</subject><ispartof>Journal of the neurological sciences, 1993-10, Vol.119 (1), p.38-42</ispartof><rights>1993</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-7232a34de799e5492e5147c3097d22204b2f77fbe389a471e3721b6fd1f5dc8f3</citedby><cites>FETCH-LOGICAL-c386t-7232a34de799e5492e5147c3097d22204b2f77fbe389a471e3721b6fd1f5dc8f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0022510X93901896$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3874877$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8246009$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vainzof, Mariz</creatorcontrib><creatorcontrib>Passos-Bueno, Maria Rita</creatorcontrib><creatorcontrib>Takata, Reinaldo I.</creatorcontrib><creatorcontrib>Pavanello, Rita de Cassia M.</creatorcontrib><creatorcontrib>Zatz, Mayana</creatorcontrib><title>Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD. No DNA deletion was detected in both patients. Dystrophin analysis through immunofluorescence and western blotting showed a negative pattern in the youngest patient and a positive one in the oldest. Apparently, this is the first report on intrafamilial variability in dystrophin abundance correlated with a difference in the severity of the phenotype.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Blotting, Western</subject><subject>Creatine Kinase - metabolism</subject><subject>Cytoskeletal Proteins - chemistry</subject><subject>Cytoskeletal Proteins - metabolism</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA - analysis</subject><subject>Duchenne dystrophy</subject><subject>Dystrophin</subject><subject>Dystrophin - chemistry</subject><subject>Dystrophin - genetics</subject><subject>Dystrophin - metabolism</subject><subject>Family</subject><subject>Female</subject><subject>Fluorescent Antibody Technique</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Intrafamilial variability</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins</subject><subject>Muscles - chemistry</subject><subject>Muscles - pathology</subject><subject>Muscular Dystrophies - genetics</subject><subject>Muscular Dystrophies - metabolism</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Utrophin</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtqHDEQRUVIcMZO_sCBXhhjLzrRq1vSJhCMX2DIJoHshFoqMTL9sqQZM39vtWeYZVYqcU9dioPQOcHfCSbtD4wprRuC_10pdq0wkapuP6AVkULWjZTsI1odkc_oNKVnjHErpTpBJ5LyFmO1QsPjmKPxZgh9MH21NTGYrsx5V4WxcruU4zSvy2i6zejMaKGyU4zQmwyueg15XbngPURYosLlNVQJthCXism__-c1jFPezfAFffKmT_D18J6hv3e3f24e6qff9483v55qy2Sba0EZNYw7EEpBwxWFhnBhGVbCUUox76gXwnfApDJcEGCCkq71jvjGWenZGbrc985xetlAynoIyULfmxGmTdKixaJRkheQ70Ebp5QieD3HMJi40wTrxbJeFOpFoVZMv1vWbVn7dujfdAO449JBa8kvDrlJ1vQ-FnEhHTEmBZdCFOznHoPiYhsg6mTDItKFCDZrN4X_3_EGq0qalg</recordid><startdate>19931001</startdate><enddate>19931001</enddate><creator>Vainzof, Mariz</creator><creator>Passos-Bueno, Maria Rita</creator><creator>Takata, Reinaldo I.</creator><creator>Pavanello, Rita de Cassia M.</creator><creator>Zatz, Mayana</creator><general>Elsevier B.V</general><general>Elsevier Science</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19931001</creationdate><title>Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype</title><author>Vainzof, Mariz ; Passos-Bueno, Maria Rita ; Takata, Reinaldo I. ; Pavanello, Rita de Cassia M. ; Zatz, Mayana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-7232a34de799e5492e5147c3097d22204b2f77fbe389a471e3721b6fd1f5dc8f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Blotting, Western</topic><topic>Creatine Kinase - metabolism</topic><topic>Cytoskeletal Proteins - chemistry</topic><topic>Cytoskeletal Proteins - metabolism</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA - analysis</topic><topic>Duchenne dystrophy</topic><topic>Dystrophin</topic><topic>Dystrophin - chemistry</topic><topic>Dystrophin - genetics</topic><topic>Dystrophin - metabolism</topic><topic>Family</topic><topic>Female</topic><topic>Fluorescent Antibody Technique</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Intrafamilial variability</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins</topic><topic>Muscles - chemistry</topic><topic>Muscles - pathology</topic><topic>Muscular Dystrophies - genetics</topic><topic>Muscular Dystrophies - metabolism</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Utrophin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vainzof, Mariz</creatorcontrib><creatorcontrib>Passos-Bueno, Maria Rita</creatorcontrib><creatorcontrib>Takata, Reinaldo I.</creatorcontrib><creatorcontrib>Pavanello, Rita de Cassia M.</creatorcontrib><creatorcontrib>Zatz, Mayana</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vainzof, Mariz</au><au>Passos-Bueno, Maria Rita</au><au>Takata, Reinaldo I.</au><au>Pavanello, Rita de Cassia M.</au><au>Zatz, Mayana</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1993-10-01</date><risdate>1993</risdate><volume>119</volume><issue>1</issue><spage>38</spage><epage>42</epage><pages>38-42</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD. No DNA deletion was detected in both patients. Dystrophin analysis through immunofluorescence and western blotting showed a negative pattern in the youngest patient and a positive one in the oldest. Apparently, this is the first report on intrafamilial variability in dystrophin abundance correlated with a difference in the severity of the phenotype.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>8246009</pmid><doi>10.1016/0022-510X(93)90189-6</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Biological and medical sciences Blotting, Western Creatine Kinase - metabolism Cytoskeletal Proteins - chemistry Cytoskeletal Proteins - metabolism Diseases of striated muscles. Neuromuscular diseases DNA - analysis Duchenne dystrophy Dystrophin Dystrophin - chemistry Dystrophin - genetics Dystrophin - metabolism Family Female Fluorescent Antibody Technique Humans Immunohistochemistry Intrafamilial variability Male Medical sciences Membrane Proteins Muscles - chemistry Muscles - pathology Muscular Dystrophies - genetics Muscular Dystrophies - metabolism Neurology Phenotype Polymerase Chain Reaction Utrophin |
| title | Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype |
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