A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report
We report a case of symptomatic carrier of Duchenne muscular dystrophy (DMD) in a 14-year-old girl with no prior family history of DMD. She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of s...
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| Veröffentlicht in: | European journal of pediatrics 1992, Vol.151 (1), p.66-68 |
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| container_title | European journal of pediatrics |
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| creator | SHIGIHARA-YASUDA, K TONOKI, H GOTO, Y ARAHATA, K ISHIKAWA, N KAJII, N FUJIEDA, K |
| description | We report a case of symptomatic carrier of Duchenne muscular dystrophy (DMD) in a 14-year-old girl with no prior family history of DMD. She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD. Southern blots using the dystrophin cDNA revealed no evidence of a deletion within the DMD gene in the patient or in her mother. We found this observation interesting for two reasons: 1. Cardiomyopathy is rare in female DMD patients. 2. Immunostaining of a muscle biopsy with anti-dystrophin serum proved to be valuable in the diagnosed for symptomatic carriers of the dystrophin gene mutation. |
| doi_str_mv | 10.1007/BF02073897 |
| format | Article |
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She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD. Southern blots using the dystrophin cDNA revealed no evidence of a deletion within the DMD gene in the patient or in her mother. We found this observation interesting for two reasons: 1. Cardiomyopathy is rare in female DMD patients. 2. Immunostaining of a muscle biopsy with anti-dystrophin serum proved to be valuable in the diagnosed for symptomatic carriers of the dystrophin gene mutation.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/BF02073897</identifier><identifier>PMID: 1370218</identifier><identifier>CODEN: EJPEDT</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adolescent ; Biological and medical sciences ; Biopsy ; Blotting, Southern ; Diseases of striated muscles. Neuromuscular diseases ; DNA, Circular - genetics ; Dystrophin - immunology ; Dystrophin - isolation & purification ; Female ; Humans ; Immunohistochemistry - methods ; Medical sciences ; Muscular Dystrophies - diagnosis ; Muscular Dystrophies - genetics ; Muscular Dystrophies - pathology ; Neurology ; Staining and Labeling</subject><ispartof>European journal of pediatrics, 1992, Vol.151 (1), p.66-68</ispartof><rights>1992 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c311t-37b7b94797c08e94eddc536b06f1fba7be574f103423add05724f19eaa0cc39f3</citedby><cites>FETCH-LOGICAL-c311t-37b7b94797c08e94eddc536b06f1fba7be574f103423add05724f19eaa0cc39f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4021,27921,27922,27923</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=5247688$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1370218$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>SHIGIHARA-YASUDA, K</creatorcontrib><creatorcontrib>TONOKI, H</creatorcontrib><creatorcontrib>GOTO, Y</creatorcontrib><creatorcontrib>ARAHATA, K</creatorcontrib><creatorcontrib>ISHIKAWA, N</creatorcontrib><creatorcontrib>KAJII, N</creatorcontrib><creatorcontrib>FUJIEDA, K</creatorcontrib><title>A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><description>We report a case of symptomatic carrier of Duchenne muscular dystrophy (DMD) in a 14-year-old girl with no prior family history of DMD. She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD. Southern blots using the dystrophin cDNA revealed no evidence of a deletion within the DMD gene in the patient or in her mother. We found this observation interesting for two reasons: 1. Cardiomyopathy is rare in female DMD patients. 2. Immunostaining of a muscle biopsy with anti-dystrophin serum proved to be valuable in the diagnosed for symptomatic carriers of the dystrophin gene mutation.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Blotting, Southern</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA, Circular - genetics</subject><subject>Dystrophin - immunology</subject><subject>Dystrophin - isolation & purification</subject><subject>Female</subject><subject>Humans</subject><subject>Immunohistochemistry - methods</subject><subject>Medical sciences</subject><subject>Muscular Dystrophies - diagnosis</subject><subject>Muscular Dystrophies - genetics</subject><subject>Muscular Dystrophies - pathology</subject><subject>Neurology</subject><subject>Staining and Labeling</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkM1LxDAUxIMouq5evAs5iAehmo-2abz5tSoIXvRcXtNXN9KmNUmR_vdWdtHTY978GJgh5ISzS86YurpdMcGULLTaIQueSpFwpvJdsmAyZUnOtT4ghyF8shnWvNgn-1wqJnixIO6GhqkbYt9BtIY22EGLdJgFuki_bVzT-9Gs0Tmk3RjM2IKn9RSi74f1RGsLH64PWNNq-ntbl4QI1ln3Qa8pUAMBqceh9_GI7DXQBjze3iV5Xz283T0lL6-Pz3c3L4mRnMdEqkpVOlVaGVagTrGuTSbziuUNbypQFWYqbfhcT0ioa5YpMUuNAMwYqRu5JOeb3MH3XyOGWHY2GGxbcNiPoVRCZSkTYgYvNqDxfQgem3LwtgM_lZyVv-OW_-PO8Ok2daw6rP_RzZqzf7b1IRhoGw_O2PCHZSJVeVHIH5iSgng</recordid><startdate>1992</startdate><enddate>1992</enddate><creator>SHIGIHARA-YASUDA, K</creator><creator>TONOKI, H</creator><creator>GOTO, Y</creator><creator>ARAHATA, K</creator><creator>ISHIKAWA, N</creator><creator>KAJII, N</creator><creator>FUJIEDA, K</creator><general>Springer</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>1992</creationdate><title>A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report</title><author>SHIGIHARA-YASUDA, K ; TONOKI, H ; GOTO, Y ; ARAHATA, K ; ISHIKAWA, N ; KAJII, N ; FUJIEDA, K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c311t-37b7b94797c08e94eddc536b06f1fba7be574f103423add05724f19eaa0cc39f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Blotting, Southern</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA, Circular - genetics</topic><topic>Dystrophin - immunology</topic><topic>Dystrophin - isolation & purification</topic><topic>Female</topic><topic>Humans</topic><topic>Immunohistochemistry - methods</topic><topic>Medical sciences</topic><topic>Muscular Dystrophies - diagnosis</topic><topic>Muscular Dystrophies - genetics</topic><topic>Muscular Dystrophies - pathology</topic><topic>Neurology</topic><topic>Staining and Labeling</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SHIGIHARA-YASUDA, K</creatorcontrib><creatorcontrib>TONOKI, H</creatorcontrib><creatorcontrib>GOTO, Y</creatorcontrib><creatorcontrib>ARAHATA, K</creatorcontrib><creatorcontrib>ISHIKAWA, N</creatorcontrib><creatorcontrib>KAJII, N</creatorcontrib><creatorcontrib>FUJIEDA, K</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>European journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SHIGIHARA-YASUDA, K</au><au>TONOKI, H</au><au>GOTO, Y</au><au>ARAHATA, K</au><au>ISHIKAWA, N</au><au>KAJII, N</au><au>FUJIEDA, K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report</atitle><jtitle>European journal of pediatrics</jtitle><addtitle>Eur J Pediatr</addtitle><date>1992</date><risdate>1992</risdate><volume>151</volume><issue>1</issue><spage>66</spage><epage>68</epage><pages>66-68</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><coden>EJPEDT</coden><abstract>We report a case of symptomatic carrier of Duchenne muscular dystrophy (DMD) in a 14-year-old girl with no prior family history of DMD. She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD. Southern blots using the dystrophin cDNA revealed no evidence of a deletion within the DMD gene in the patient or in her mother. We found this observation interesting for two reasons: 1. Cardiomyopathy is rare in female DMD patients. 2. Immunostaining of a muscle biopsy with anti-dystrophin serum proved to be valuable in the diagnosed for symptomatic carriers of the dystrophin gene mutation.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><pub>Springer</pub><pmid>1370218</pmid><doi>10.1007/BF02073897</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6199 |
| ispartof | European journal of pediatrics, 1992, Vol.151 (1), p.66-68 |
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| language | eng |
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| subjects | Adolescent Biological and medical sciences Biopsy Blotting, Southern Diseases of striated muscles. Neuromuscular diseases DNA, Circular - genetics Dystrophin - immunology Dystrophin - isolation & purification Female Humans Immunohistochemistry - methods Medical sciences Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Muscular Dystrophies - pathology Neurology Staining and Labeling |
| title | A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining : a case report |
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