Detection of subclinical and carrier states in Duchenne muscular dystrophy
Three methods of study, consisting of determinations of serum creatine phosphokinase and aldolase, electromyography, and muscle biopsy, were utilized to study clinically uninvolved members of nine families containing one or more known cases of muscular dystrophy. The combined use of these methods of...
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| Veröffentlicht in: | The Journal of pediatrics 1966-07, Vol.69 (1), p.67-79 |
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| container_title | The Journal of pediatrics |
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| creator | Smith, Harris L. Amick, Lawrence D. Johnson, Warren W. |
| description | Three methods of study, consisting of determinations of serum creatine phosphokinase and aldolase, electromyography, and muscle biopsy, were utilized to study clinically uninvolved members of nine families containing one or more known cases of muscular dystrophy. The combined use of these methods of study allowed detection not only of advanced myopathic changes, but also of minimal abnormalities considered characteristic of the heterozygous state. The graded findings formed a useful basis for a rational classification of abnormalities to denote “preclinical”, “carrier” and “presumptive carrier” states. In addition, results provided further indirect evidence that X-chromosome mosaicism may be operative in the inheritance of the Duchenne type of muscular dystrophy. |
| doi_str_mv | 10.1016/S0022-3476(66)80363-3 |
| format | Article |
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The combined use of these methods of study allowed detection not only of advanced myopathic changes, but also of minimal abnormalities considered characteristic of the heterozygous state. The graded findings formed a useful basis for a rational classification of abnormalities to denote “preclinical”, “carrier” and “presumptive carrier” states. 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The combined use of these methods of study allowed detection not only of advanced myopathic changes, but also of minimal abnormalities considered characteristic of the heterozygous state. The graded findings formed a useful basis for a rational classification of abnormalities to denote “preclinical”, “carrier” and “presumptive carrier” states. In addition, results provided further indirect evidence that X-chromosome mosaicism may be operative in the inheritance of the Duchenne type of muscular dystrophy.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Blood</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Classification</subject><subject>Creatine Kinase</subject><subject>Electromyography</subject><subject>Female</subject><subject>Fructose-Bisphosphate Aldolase</subject><subject>Humans</subject><subject>Male</subject><subject>Mosaicism</subject><subject>Muscular Dystrophies - diagnosis</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1966</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDtPwzAQxy0EglL4CJU8IRgC5zq2kwkh3qgSAzBbzuWiGuVR7ASp357QVqxMN_xfuh9jMwGXAoS-egOYzxOZGn2u9UUGUstE7rGJgNwkOpNyn03-LEfsOMZPAMhTgEN2qHKpjIEJe7mjnrD3Xcu7isehwNq3Hl3NXVtydCF4Cjz2rqfIfcvvBlxS2xJvhohD7QIv17EP3Wq5PmEHlasjne7ulH083L_fPiWL18fn25tFglJDnziUKRWukpiVUFGlRJoTVpUCRZChIVRpYQzKnIRB0rqcS1XkgpzSmcJSTtnZtncVuq-BYm8bH5Hq2rXUDdFmqTAmzdPRqLZGDF2MgSq7Cr5xYW0F2F-GdsPQ_gKyWtsNQyvH3Gw3MBQNlX-pHbRRv97qNH75PfKxET21SKUPI0tbdv6fhR-44oJi</recordid><startdate>196607</startdate><enddate>196607</enddate><creator>Smith, Harris L.</creator><creator>Amick, Lawrence D.</creator><creator>Johnson, Warren W.</creator><general>Mosby, Inc</general><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>196607</creationdate><title>Detection of subclinical and carrier states in Duchenne muscular dystrophy</title><author>Smith, Harris L. ; Amick, Lawrence D. ; Johnson, Warren W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c360t-ac34ebaf3c8d0fef5149ecff505e08c7ec54b77c39e17ce66d235b91ea5685cd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1966</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Blood</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Classification</topic><topic>Creatine Kinase</topic><topic>Electromyography</topic><topic>Female</topic><topic>Fructose-Bisphosphate Aldolase</topic><topic>Humans</topic><topic>Male</topic><topic>Mosaicism</topic><topic>Muscular Dystrophies - diagnosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Smith, Harris L.</creatorcontrib><creatorcontrib>Amick, Lawrence D.</creatorcontrib><creatorcontrib>Johnson, Warren W.</creatorcontrib><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>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Smith, Harris L.</au><au>Amick, Lawrence D.</au><au>Johnson, Warren W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of subclinical and carrier states in Duchenne muscular dystrophy</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>1966-07</date><risdate>1966</risdate><volume>69</volume><issue>1</issue><spage>67</spage><epage>79</epage><pages>67-79</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><abstract>Three methods of study, consisting of determinations of serum creatine phosphokinase and aldolase, electromyography, and muscle biopsy, were utilized to study clinically uninvolved members of nine families containing one or more known cases of muscular dystrophy. 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| ispartof | The Journal of pediatrics, 1966-07, Vol.69 (1), p.67-79 |
| issn | 0022-3476 1097-6833 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adolescent Adult Blood Child Child, Preschool Classification Creatine Kinase Electromyography Female Fructose-Bisphosphate Aldolase Humans Male Mosaicism Muscular Dystrophies - diagnosis |
| title | Detection of subclinical and carrier states in Duchenne muscular dystrophy |
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