Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci
Identifieur interne : 001343 ( Istex/Corpus ); précédent : 001342; suivant : 001344Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci
Auteurs : Tracey Weiler ; Cheryl R. Greenberg ; Edward Nylen ; Kenneth Morgan ; T. Mary Fujiwara ; M. Joyce Crumley ; Teresa Zelinski ; William Halliday ; Barbara Nickel ; Barbara Triggs-Raine ; Klaus WrogemannSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1997-10-31.
English descriptors
- KwdEn :
Abstract
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197–202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two‐point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of ≤−2 at θ=0.01 in all cases and in most cases at θ=0.05. This suggests that there is at least 1 additional locus for LGMD. Am. J. Med. Genet. 72:363–368, 1997. © 1997 Wiley‐Liss, Inc.
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DOI: 10.1002/(SICI)1096-8628(19971031)72:3<363::AID-AJMG22>3.0.CO;2-Q
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Greenberg</name><affiliation><mods:affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</mods:affiliation></affiliation></author><author><name sortKey="Nylen, Edward" sort="Nylen, Edward" uniqKey="Nylen E" first="Edward" last="Nylen">Edward Nylen</name><affiliation><mods:affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</mods:affiliation></affiliation></author><author><name sortKey="Morgan, Kenneth" sort="Morgan, Kenneth" uniqKey="Morgan K" first="Kenneth" last="Morgan">Kenneth Morgan</name><affiliation><mods:affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</mods:affiliation></affiliation></author><author><name sortKey="Fujiwara, T Mary" sort="Fujiwara, T Mary" uniqKey="Fujiwara T" first="T. Mary" last="Fujiwara">T. Mary Fujiwara</name><affiliation><mods:affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pediatrics, McGill University, Montreal, Quebec, Canada</mods:affiliation></affiliation></author><author><name sortKey="Crumley, M Joyce" sort="Crumley, M Joyce" uniqKey="Crumley M" first="M. Joyce" last="Crumley">M. 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E‐mail: K―WROGEMANN@UMANITOBA.CA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1997-10-31">1997-10-31</date><biblScope unit="volume">72</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="363">363</biblScope><biblScope unit="page" to="368">368</biblScope></imprint><idno type="ISSN">0148-7299</idno></series><idno type="istex">0E7FA99A2D26D8CCB1D3B44E90DADE566D6A2F89</idno><idno type="DOI">10.1002/(SICI)1096-8628(19971031)72:3<363::AID-AJMG22>3.0.CO;2-Q</idno><idno type="ArticleID">AJMG22</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Hutterite</term><term>LGMD</term><term>exclusion</term><term>gene mapping</term><term>limb girdle</term><term>muscular dystrophy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197–202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two‐point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of ≤−2 at θ=0.01 in all cases and in most cases at θ=0.05. This suggests that there is at least 1 additional locus for LGMD. Am. J. Med. Genet. 72:363–368, 1997. © 1997 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Tracey Weiler</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>Cheryl R. Greenberg</name><affiliations><json:string>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</json:string><json:string>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>Edward Nylen</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>Kenneth Morgan</name><affiliations><json:string>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</json:string><json:string>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</json:string></affiliations></json:item><json:item><name>T. Mary Fujiwara</name><affiliations><json:string>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</json:string><json:string>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</json:string><json:string>Department of Pediatrics, McGill University, Montreal, Quebec, Canada</json:string></affiliations></json:item><json:item><name>M. Joyce Crumley</name><affiliations><json:string>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</json:string><json:string>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</json:string></affiliations></json:item><json:item><name>Teresa Zelinski</name><affiliations><json:string>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</json:string><json:string>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>William Halliday</name><affiliations><json:string>Department of Pathology, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>Barbara Nickel</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>Barbara Triggs‐Raine</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</json:string><json:string>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</json:string></affiliations></json:item><json:item><name>Klaus Wrogemann</name><affiliations><json:string>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</json:string><json:string>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</json:string><json:string>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</json:string><json:string>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, MB, Canada R3E 0W3. 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Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197–202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two‐point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of ≤−2 at θ=0.01 in all cases and in most cases at θ=0.05. This suggests that there is at least 1 additional locus for LGMD. Am. J. Med. 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Mary</forename><surname>Fujiwara</surname></persName><affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</affiliation><affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</affiliation><affiliation>Department of Pediatrics, McGill University, Montreal, Quebec, Canada</affiliation></author><author xml:id="author-6"><persName><forename type="first">M. Joyce</forename><surname>Crumley</surname></persName><affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</affiliation><affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</affiliation></author><author xml:id="author-7"><persName><forename type="first">Teresa</forename><surname>Zelinski</surname></persName><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation></author><author xml:id="author-8"><persName><forename type="first">William</forename><surname>Halliday</surname></persName><affiliation>Department of Pathology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation></author><author xml:id="author-9"><persName><forename type="first">Barbara</forename><surname>Nickel</surname></persName><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation></author><author xml:id="author-10"><persName><forename type="first">Barbara</forename><surname>Triggs‐Raine</surname></persName><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation></author><author xml:id="author-11"><persName><forename type="first">Klaus</forename><surname>Wrogemann</surname></persName><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, MB, Canada R3E 0W3. E‐mail: K―WROGEMANN@UMANITOBA.CA</affiliation></author></analytic><monogr><title level="j">American Journal of Medical Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="DOI">10.1002/(ISSN)1096-8628</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1997-10-31"></date><biblScope unit="volume">72</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="363">363</biblScope><biblScope unit="page" to="368">368</biblScope></imprint></monogr><idno type="istex">0E7FA99A2D26D8CCB1D3B44E90DADE566D6A2F89</idno><idno type="DOI">10.1002/(SICI)1096-8628(19971031)72:3<363::AID-AJMG22>3.0.CO;2-Q</idno><idno type="ArticleID">AJMG22</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1997</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197–202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two‐point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of ≤−2 at θ=0.01 in all cases and in most cases at θ=0.05. This suggests that there is at least 1 additional locus for LGMD. Am. J. Med. Genet. 72:363–368, 1997. © 1997 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>keywords</head><item><term>LGMD</term></item><item><term>exclusion</term></item><item><term>limb girdle</term></item><item><term>gene mapping</term></item><item><term>muscular dystrophy</term></item><item><term>Hutterite</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article-category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1997-03-11">Received</change><change when="1997-05-21">Registration</change><change when="1997-10-31">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/0E7FA99A2D26D8CCB1D3B44E90DADE566D6A2F89/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="30"><doi origin="wiley" registered="yes">10.1002/(SICI)1096-8628(19971031)72:3<>1.0.CO;2-E</doi><idGroup><id type="focusSection" value="0"></id></idGroup><titleGroup><title type="focusSection" xml:lang="en">American Journal of Medical Genetics</title></titleGroup><numberingGroup><numbering type="journalVolume" number="72">72</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="1997-10-31">31 October 1997</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="22" status="forIssue"><doi origin="wiley" registered="yes">10.1002/(SICI)1096-8628(19971031)72:3<363::AID-AJMG22>3.0.CO;2-Q</doi><idGroup><id type="unit" value="AJMG22"></id></idGroup><countGroup><count type="pageTotal" number="6"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1997 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="1997-03-11"></event><event type="manuscriptAccepted" date="1997-05-21"></event><event type="firstOnline" date="1998-12-06"></event><event type="publishedOnlineFinalForm" date="1998-12-06"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:HeaderRef result:HeaderRef" date="2010-05-17"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">363</numbering><numbering type="pageLast">368</numbering></numberingGroup><correspondenceTo>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, MB, Canada R3E 0W3. E‐mail: K―WROGEMANN@UMANITOBA.CA</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG22.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="36"></count></countGroup><titleGroup><title type="main" xml:lang="en">Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci</title><title type="short" xml:lang="en">LGMD Does Not Map to Any Known Loci</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Tracey</givenNames><familyName>Weiler</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Cheryl R.</givenNames><familyName>Greenberg</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Edward</givenNames><familyName>Nylen</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>Kenneth</givenNames><familyName>Morgan</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4 #af5 #af6"><personName><givenNames>T. Mary</givenNames><familyName>Fujiwara</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>M. 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Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197–202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two‐point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of ≤−2 at θ=0.01 in all cases and in most cases at θ=0.05. This suggests that there is at least 1 additional locus for LGMD. Am. J. Med. Genet. 72:363–368, 1997. © 1997 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>LGMD Does Not Map to Any Known Loci</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci</title></titleInfo><name type="personal"><namePart type="given">Tracey</namePart><namePart type="family">Weiler</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cheryl R.</namePart><namePart type="family">Greenberg</namePart><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Edward</namePart><namePart type="family">Nylen</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kenneth</namePart><namePart type="family">Morgan</namePart><affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</affiliation><affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T. Mary</namePart><namePart type="family">Fujiwara</namePart><affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</affiliation><affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</affiliation><affiliation>Department of Pediatrics, McGill University, Montreal, Quebec, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M. Joyce</namePart><namePart type="family">Crumley</namePart><affiliation>Departments of Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada</affiliation><affiliation>Montreal General Hospital Research Institute, Montreal, Quebec, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Teresa</namePart><namePart type="family">Zelinski</namePart><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William</namePart><namePart type="family">Halliday</namePart><affiliation>Department of Pathology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Barbara</namePart><namePart type="family">Nickel</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Barbara</namePart><namePart type="family">Triggs‐Raine</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Klaus</namePart><namePart type="family">Wrogemann</namePart><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada</affiliation><affiliation>Department of Biochemistry and Molecular Biology, University of Manitoba, Winnipeg, MB, Canada R3E 0W3. E‐mail: K―WROGEMANN@UMANITOBA.CA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1997-10-31</dateIssued><dateCaptured encoding="w3cdtf">1997-03-11</dateCaptured><dateValid encoding="w3cdtf">1997-05-21</dateValid><copyrightDate encoding="w3cdtf">1997</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">36</extent></physicalDescription><abstract lang="en">Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the basis of exclusion of linkage. An autosomal recessive muscular dystrophy was first described in 1976 in the Hutterite Brethren, a North American genetic and religious isolate [Shokeir and Kobrinsky, 1976; Clin Genet 9:197–202]. In this report, we discuss the results of linkage analysis in 4 related Manitoba Hutterite sibships with 21 patients affected with a mild autosomal recessive form of LGMD. Because of the difficulties in assigning a phenotype in some asymptomatic individuals, stringent criteria for the affected phenotype were employed. As a result, 7 asymptomatic relatives with only mildly elevated CK levels were assigned an unknown phenotype to prevent their possible misclassification. Two‐point linkage analysis of the disease locus against markers linked to 7 of the known LGMD loci and 3 other candidate genes yielded lod scores of ≤−2 at θ=0.01 in all cases and in most cases at θ=0.05. This suggests that there is at least 1 additional locus for LGMD. Am. J. Med. Genet. 72:363–368, 1997. © 1997 Wiley‐Liss, Inc.</abstract><note type="funding">Medical Research Council of Canada</note><note type="funding">Muscular Dystrophy Association of Canada</note><note type="funding">Manitoba Medical Services Foundation</note><note type="funding">Canadian Genetic Diseases Network</note><note type="funding">Winnipeg Rh Institute Foundation</note><note type="funding">Children's Hospital of Winnipeg Research Foundation</note><subject lang="en"><genre>keywords</genre><topic>LGMD</topic><topic>exclusion</topic><topic>limb girdle</topic><topic>gene mapping</topic><topic>muscular dystrophy</topic><topic>Hutterite</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>1997</date><detail type="volume"><caption>vol.</caption><number>72</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>363</start><end>368</end><total>6</total></extent></part></relatedItem><identifier type="istex">0E7FA99A2D26D8CCB1D3B44E90DADE566D6A2F89</identifier><identifier type="DOI">10.1002/(SICI)1096-8628(19971031)72:3<363::AID-AJMG22>3.0.CO;2-Q</identifier><identifier type="ArticleID">AJMG22</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1997 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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