Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2)
We studied 169 members of 15 families with Charcot-Marie-Tooth neuropathy (CMT1) showing male-to-male transmission and slow motor-nerve conduction velocities. Four of these families were informative for linkage to apolipoprotein A2 on chromosome 1 (1q21-23) with an overall lod score of 2.45 at theta...
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| Veröffentlicht in: | American journal of human genetics 1988, Vol.42 (1), p.74-76 |
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| container_title | American journal of human genetics |
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| creator | IONASESCU, V ANDERSON, R BURNS, T. L SEARBY, C IONASESCU, R FERRELL, R |
| description | We studied 169 members of 15 families with Charcot-Marie-Tooth neuropathy (CMT1) showing male-to-male transmission and slow motor-nerve conduction velocities. Four of these families were informative for linkage to apolipoprotein A2 on chromosome 1 (1q21-23) with an overall lod score of 2.45 at theta = .001. There was no statistical evidence of genetic heterogeneity. |
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There was no statistical evidence of genetic heterogeneity.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 3122561</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Apolipoprotein A-II ; Apolipoproteins A - blood ; Apolipoproteins A - genetics ; Biological and medical sciences ; Charcot-Marie-Tooth Disease - blood ; Charcot-Marie-Tooth Disease - genetics ; Chromosomes, Human, Pair 1 ; Diseases of striated muscles. Neuromuscular diseases ; DNA - genetics ; Female ; Genetic Linkage ; Genetic Markers ; Humans ; Lod Score ; Male ; Medical sciences ; Muscular Atrophy, Spinal - genetics ; Neurology ; Renin - genetics</subject><ispartof>American journal of human genetics, 1988, Vol.42 (1), p.74-76</ispartof><rights>1989 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715300/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1715300/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,4009,53770,53772</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=7036016$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/3122561$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>IONASESCU, V</creatorcontrib><creatorcontrib>ANDERSON, R</creatorcontrib><creatorcontrib>BURNS, T. L</creatorcontrib><creatorcontrib>SEARBY, C</creatorcontrib><creatorcontrib>IONASESCU, R</creatorcontrib><creatorcontrib>FERRELL, R</creatorcontrib><title>Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2)</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>We studied 169 members of 15 families with Charcot-Marie-Tooth neuropathy (CMT1) showing male-to-male transmission and slow motor-nerve conduction velocities. Four of these families were informative for linkage to apolipoprotein A2 on chromosome 1 (1q21-23) with an overall lod score of 2.45 at theta = .001. There was no statistical evidence of genetic heterogeneity.</description><subject>Apolipoprotein A-II</subject><subject>Apolipoproteins A - blood</subject><subject>Apolipoproteins A - genetics</subject><subject>Biological and medical sciences</subject><subject>Charcot-Marie-Tooth Disease - blood</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Chromosomes, Human, Pair 1</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA - genetics</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>Neurology</subject><subject>Renin - genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1988</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtLw0AUhYMotVZ_gjALkXYRmEdmJrMRSqkPaHFTVy7C7WSmGU0zcZIU-u8NGIquXN0L57uHc7hn0ZhwJmMhMD-PxhhjGiuq5GV01TQfGBOSYjaKRoxQygUZR-_Lg8tNpQ2yPqDSVZ-wM8hbtCggaN_GawjOxBvv2wJVpgu-hrY4oulivSEz1HoEtS9d7evgW-MqNKdoOq99PKez6-jCQtmYm2FOorfH5WbxHK9en14W81VcM07bOE-FsioxlEtuteIWtkpjC0xhKyXDGHTOcoMTSPoFUgoGNNdccMW07utOoocf37rb7k2uTdUGKLM6uD2EY-bBZX-VyhXZzh8yIvtrjHuD-8Eg-K_ONG22d402ZQmV8V2TyRRLzsT_IBMqJUrSf0GSKKE4T3rw9nf2U-jhQb1-N-jQaChtgEq75oRJ3Mcign0D_BeZqA</recordid><startdate>1988</startdate><enddate>1988</enddate><creator>IONASESCU, V</creator><creator>ANDERSON, R</creator><creator>BURNS, T. L</creator><creator>SEARBY, C</creator><creator>IONASESCU, R</creator><creator>FERRELL, R</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>8BJ</scope><scope>FQK</scope><scope>JBE</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>1988</creationdate><title>Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2)</title><author>IONASESCU, V ; ANDERSON, R ; BURNS, T. L ; SEARBY, C ; IONASESCU, R ; FERRELL, R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p352t-d869f94e2575fc95fab9c0fa390f77300acd3de04a4cd3a82aeac5c56593cc153</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1988</creationdate><topic>Apolipoprotein A-II</topic><topic>Apolipoproteins A - blood</topic><topic>Apolipoproteins A - genetics</topic><topic>Biological and medical sciences</topic><topic>Charcot-Marie-Tooth Disease - blood</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Chromosomes, Human, Pair 1</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA - genetics</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Humans</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>Neurology</topic><topic>Renin - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>IONASESCU, V</creatorcontrib><creatorcontrib>ANDERSON, R</creatorcontrib><creatorcontrib>BURNS, T. L</creatorcontrib><creatorcontrib>SEARBY, C</creatorcontrib><creatorcontrib>IONASESCU, R</creatorcontrib><creatorcontrib>FERRELL, R</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>International Bibliography of the Social Sciences (IBSS)</collection><collection>International Bibliography of the Social Sciences</collection><collection>International Bibliography of the Social Sciences</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>IONASESCU, V</au><au>ANDERSON, R</au><au>BURNS, T. L</au><au>SEARBY, C</au><au>IONASESCU, R</au><au>FERRELL, R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2)</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1988</date><risdate>1988</risdate><volume>42</volume><issue>1</issue><spage>74</spage><epage>76</epage><pages>74-76</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>We studied 169 members of 15 families with Charcot-Marie-Tooth neuropathy (CMT1) showing male-to-male transmission and slow motor-nerve conduction velocities. Four of these families were informative for linkage to apolipoprotein A2 on chromosome 1 (1q21-23) with an overall lod score of 2.45 at theta = .001. There was no statistical evidence of genetic heterogeneity.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>3122561</pmid><tpages>3</tpages></addata></record> |
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| ispartof | American journal of human genetics, 1988, Vol.42 (1), p.74-76 |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Apolipoprotein A-II Apolipoproteins A - blood Apolipoproteins A - genetics Biological and medical sciences Charcot-Marie-Tooth Disease - blood Charcot-Marie-Tooth Disease - genetics Chromosomes, Human, Pair 1 Diseases of striated muscles. Neuromuscular diseases DNA - genetics Female Genetic Linkage Genetic Markers Humans Lod Score Male Medical sciences Muscular Atrophy, Spinal - genetics Neurology Renin - genetics |
| title | Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2) |
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