Paternal transmission of congenital myotonic dystrophy
The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can...
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| Veröffentlicht in: | Journal of medical genetics 1994-07, Vol.31 (7), p.518-520 |
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| container_title | Journal of medical genetics |
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| creator | Bergoffen, J Kant, J Sladky, J McDonald-McGinn, D Zackai, E H Fischbeck, K H |
| description | The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families. |
| doi_str_mv | 10.1136/jmg.31.7.518 |
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We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.31.7.518</identifier><identifier>PMID: 7966187</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adolescent ; Biological and medical sciences ; Blotting, Southern ; case reports ; Diseases of striated muscles. Neuromuscular diseases ; DNA - analysis ; DNA Probes ; Humans ; Male ; man ; Medical sciences ; myotonic dystrophy ; Myotonic Dystrophy - congenital ; Myotonic Dystrophy - genetics ; Myotonin-Protein Kinase ; Neurology ; Pedigree ; Protein Kinases - genetics ; Protein-Serine-Threonine Kinases</subject><ispartof>Journal of medical genetics, 1994-07, Vol.31 (7), p.518-520</ispartof><rights>1994 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Jul 1994</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b632t-e38c236dd890cc2f6a3e71d5aad7cec2cedbeccdb7820c063bfbee633a8c10ec3</citedby><cites>FETCH-LOGICAL-b632t-e38c236dd890cc2f6a3e71d5aad7cec2cedbeccdb7820c063bfbee633a8c10ec3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049972/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049972/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4150221$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7966187$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bergoffen, J</creatorcontrib><creatorcontrib>Kant, J</creatorcontrib><creatorcontrib>Sladky, J</creatorcontrib><creatorcontrib>McDonald-McGinn, D</creatorcontrib><creatorcontrib>Zackai, E H</creatorcontrib><creatorcontrib>Fischbeck, K H</creatorcontrib><title>Paternal transmission of congenital myotonic dystrophy</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>case reports</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA - analysis</subject><subject>DNA Probes</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>myotonic dystrophy</subject><subject>Myotonic Dystrophy - congenital</subject><subject>Myotonic Dystrophy - genetics</subject><subject>Myotonin-Protein Kinase</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Protein Kinases - genetics</subject><subject>Protein-Serine-Threonine Kinases</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkU1vEzEQhi0EKmnhxhUpEohe2OCxd23vpRKK2lKpBSQ-ys3yznpTh1072BtE_j0OiSLgACcf3kevZ-Yh5AnQGQAXr5bDYsZhJmcVqHtkAqVQhWBleZ9MKGWsYFXNH5LjlJaUApcgjsiRrIUAJSdEvDejjd700zEanwaXkgt-GropBr-w3o05GjZhDN7htN2kMYbV3eYRedCZPtnH-_eEfLo4_zh_U1y_u7yav74uGsHZWFiukHHRtqqmiKwThlsJbWVMK9EiQ9s2FrFtpGIUqeBN11grODcKgVrkJ-Rs17taN4Nt0fo8Zq9X0Q0mbnQwTv-ZeHenF-G7BlrWtWS54MW-IIZva5tGnVdE2_fG27BOWgrFeV2W_wVBVAqohAw--wtchvX2gpmRklaKwy_q5Y7CGFKKtjvMDFRvtemsTXPQUmdtGX_6-54HeO8p58_3uUlo-i67QpcOWAlVNr39tdhhLo32xyE28asWkstKv_0811_Kuby5uP2gbzN_uuObYfnvAX8CSk6-Ag</recordid><startdate>19940701</startdate><enddate>19940701</enddate><creator>Bergoffen, J</creator><creator>Kant, J</creator><creator>Sladky, J</creator><creator>McDonald-McGinn, D</creator><creator>Zackai, E H</creator><creator>Fischbeck, K H</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19940701</creationdate><title>Paternal transmission of congenital myotonic dystrophy</title><author>Bergoffen, J ; Kant, J ; Sladky, J ; McDonald-McGinn, D ; Zackai, E H ; Fischbeck, K H</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b632t-e38c236dd890cc2f6a3e71d5aad7cec2cedbeccdb7820c063bfbee633a8c10ec3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Blotting, Southern</topic><topic>case reports</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA - analysis</topic><topic>DNA Probes</topic><topic>Humans</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>myotonic dystrophy</topic><topic>Myotonic Dystrophy - congenital</topic><topic>Myotonic Dystrophy - genetics</topic><topic>Myotonin-Protein Kinase</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Protein Kinases - genetics</topic><topic>Protein-Serine-Threonine Kinases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bergoffen, J</creatorcontrib><creatorcontrib>Kant, J</creatorcontrib><creatorcontrib>Sladky, J</creatorcontrib><creatorcontrib>McDonald-McGinn, D</creatorcontrib><creatorcontrib>Zackai, E H</creatorcontrib><creatorcontrib>Fischbeck, K H</creatorcontrib><collection>Istex</collection><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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bergoffen, J</au><au>Kant, J</au><au>Sladky, J</au><au>McDonald-McGinn, D</au><au>Zackai, E H</au><au>Fischbeck, K H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Paternal transmission of congenital myotonic dystrophy</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1994-07-01</date><risdate>1994</risdate><volume>31</volume><issue>7</issue><spage>518</spage><epage>520</epage><pages>518-520</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7966187</pmid><doi>10.1136/jmg.31.7.518</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 1994-07, Vol.31 (7), p.518-520 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adolescent Biological and medical sciences Blotting, Southern case reports Diseases of striated muscles. Neuromuscular diseases DNA - analysis DNA Probes Humans Male man Medical sciences myotonic dystrophy Myotonic Dystrophy - congenital Myotonic Dystrophy - genetics Myotonin-Protein Kinase Neurology Pedigree Protein Kinases - genetics Protein-Serine-Threonine Kinases |
| title | Paternal transmission of congenital myotonic dystrophy |
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