Carrier detection in X-linked becker muscular dystrophy by muscle provocation test (MPT)
The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carrier...
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| Veröffentlicht in: | Journal of the neurological sciences 1983-12, Vol.62 (1), p.141-146 |
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| container_title | Journal of the neurological sciences |
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| creator | Herrmann, Falko H. Spiegler, Aribert W.J. |
| description | The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatine kinase (CK) values on repeated determination within the normal range showed a greater CK elevation after MPT than control subjects. Three of seven daughters of obligate carriers with normal resting CK activity had increased CK activity after MPT. These data suggest that the use of MPT may enhance the capability to discriminate carriers for these X-linked recessive genes. |
| doi_str_mv | 10.1016/0022-510X(83)90194-6 |
| format | Article |
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The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatine kinase (CK) values on repeated determination within the normal range showed a greater CK elevation after MPT than control subjects. Three of seven daughters of obligate carriers with normal resting CK activity had increased CK activity after MPT. These data suggest that the use of MPT may enhance the capability to discriminate carriers for these X-linked recessive genes.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/0022-510X(83)90194-6</identifier><identifier>PMID: 6668470</identifier><identifier>CODEN: JNSCAG</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Becker muscular dystrophy ; Biological and medical sciences ; Carrier detection ; Clinical Enzyme Tests ; Creatine Kinase - blood ; Diseases of striated muscles. Neuromuscular diseases ; Duchenne muscular dystrophy ; Female ; Genetic Carrier Screening ; Humans ; Medical sciences ; Middle Aged ; Muscle provocation test (MPT) ; Muscles - enzymology ; Muscular Dystrophies - diagnosis ; Muscular Dystrophies - genetics ; Neurology ; Physical Exertion ; Reference Values ; Space life sciences ; X Chromosome</subject><ispartof>Journal of the neurological sciences, 1983-12, Vol.62 (1), p.141-146</ispartof><rights>1983</rights><rights>1984 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-91bdfb6917a397b17073f47666e5cd1dc14c3b41c015c75528e759f3f64ae4c23</citedby><cites>FETCH-LOGICAL-c386t-91bdfb6917a397b17073f47666e5cd1dc14c3b41c015c75528e759f3f64ae4c23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0022-510X(83)90194-6$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=9569558$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6668470$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Herrmann, Falko H.</creatorcontrib><creatorcontrib>Spiegler, Aribert W.J.</creatorcontrib><title>Carrier detection in X-linked becker muscular dystrophy by muscle provocation test (MPT)</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatine kinase (CK) values on repeated determination within the normal range showed a greater CK elevation after MPT than control subjects. Three of seven daughters of obligate carriers with normal resting CK activity had increased CK activity after MPT. These data suggest that the use of MPT may enhance the capability to discriminate carriers for these X-linked recessive genes.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Becker muscular dystrophy</subject><subject>Biological and medical sciences</subject><subject>Carrier detection</subject><subject>Clinical Enzyme Tests</subject><subject>Creatine Kinase - blood</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Duchenne muscular dystrophy</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Muscle provocation test (MPT)</subject><subject>Muscles - enzymology</subject><subject>Muscular Dystrophies - diagnosis</subject><subject>Muscular Dystrophies - genetics</subject><subject>Neurology</subject><subject>Physical Exertion</subject><subject>Reference Values</subject><subject>Space life sciences</subject><subject>X Chromosome</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1983</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1rGzEQhkVIcZw0_6CBPYRiH7aRrNXXJVBM0xZcmoMLvgnt7CxVvN51pF2D_33lD3zsSTDzvKOXh5BPjH5hlMknSmezXDC6mmg-NZSZIpdXZMy00rnQml-T8QW5IbcxvlFKpdZmREZSSl0oOiaruQvBY8gq7BF637WZb7NV3vh2jVVWIqzTcjNEGBqXqH3sQ7f9u8_K_XHaYLYN3a4Dd8z2GPts8ut1Of1IPtSuiXh_fu_In5dvy_mPfPH7-8_510UOXMs-N6ys6lIaphw3qmSKKl4XKvVDARWrgBXAy4IBZQKUEDONSpia17JwWMCM35HPp7upxvuQvrcbHwGbxrXYDdFqqqUWUiWwOIEQuhgD1nYb_MaFvWXUHoTagy17sGU1t0ehVqbYw_n-UG6wuoTOBtP-8bx3EVxTB9eCjxfMCGmE0Al7PmGYXOyScBvBYwtY-ZC826rz_-_xD2f_kZc</recordid><startdate>198312</startdate><enddate>198312</enddate><creator>Herrmann, Falko H.</creator><creator>Spiegler, Aribert W.J.</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>198312</creationdate><title>Carrier detection in X-linked becker muscular dystrophy by muscle provocation test (MPT)</title><author>Herrmann, Falko H. ; Spiegler, Aribert W.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-91bdfb6917a397b17073f47666e5cd1dc14c3b41c015c75528e759f3f64ae4c23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1983</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Becker muscular dystrophy</topic><topic>Biological and medical sciences</topic><topic>Carrier detection</topic><topic>Clinical Enzyme Tests</topic><topic>Creatine Kinase - blood</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Duchenne muscular dystrophy</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Muscle provocation test (MPT)</topic><topic>Muscles - enzymology</topic><topic>Muscular Dystrophies - diagnosis</topic><topic>Muscular Dystrophies - genetics</topic><topic>Neurology</topic><topic>Physical Exertion</topic><topic>Reference Values</topic><topic>Space life sciences</topic><topic>X Chromosome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Herrmann, Falko H.</creatorcontrib><creatorcontrib>Spiegler, Aribert W.J.</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>Herrmann, Falko H.</au><au>Spiegler, Aribert W.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Carrier detection in X-linked becker muscular dystrophy by muscle provocation test (MPT)</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1983-12</date><risdate>1983</risdate><volume>62</volume><issue>1</issue><spage>141</spage><epage>146</epage><pages>141-146</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatine kinase (CK) values on repeated determination within the normal range showed a greater CK elevation after MPT than control subjects. Three of seven daughters of obligate carriers with normal resting CK activity had increased CK activity after MPT. These data suggest that the use of MPT may enhance the capability to discriminate carriers for these X-linked recessive genes.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>6668470</pmid><doi>10.1016/0022-510X(83)90194-6</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-510X |
| ispartof | Journal of the neurological sciences, 1983-12, Vol.62 (1), p.141-146 |
| issn | 0022-510X 1878-5883 |
| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adolescent Adult Becker muscular dystrophy Biological and medical sciences Carrier detection Clinical Enzyme Tests Creatine Kinase - blood Diseases of striated muscles. Neuromuscular diseases Duchenne muscular dystrophy Female Genetic Carrier Screening Humans Medical sciences Middle Aged Muscle provocation test (MPT) Muscles - enzymology Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Neurology Physical Exertion Reference Values Space life sciences X Chromosome |
| title | Carrier detection in X-linked becker muscular dystrophy by muscle provocation test (MPT) |
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