Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) ca...
Gespeichert in:
| Veröffentlicht in: | Human genome variation 2020-04, Vol.7 (1), p.12-12, Article 12 |
|---|---|
| Hauptverfasser: | , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 12 |
|---|---|
| container_issue | 1 |
| container_start_page | 12 |
| container_title | Human genome variation |
| container_volume | 7 |
| creator | Okazaki, Tetsuya Matsuura, Kaori Kasagi, Noriko Adachi, Kaori Kai, Masachika Okubo, Mariko Nishino, Ichizo Nanba, Eiji Maegaki, Yoshihiro |
| description | A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous
FKRP
variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive
FKRP
variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant. |
| doi_str_mv | 10.1038/s41439-020-0099-x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7171098</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2392417025</sourcerecordid><originalsourceid>FETCH-LOGICAL-c556t-d989caf780d643e7f9792a2a807707486320a80f20a21a483ee63920446078fb3</originalsourceid><addsrcrecordid>eNp9kstu1DAUhiMEolXpA7BBltjAInB8i-0NUtXSi5iqqCoSO8vNOBOXjB3sZOjs-g59Q54Ej1JKqQQbX7_zn-PjvyheYniHgcr3iWFGVQkESgClyusnxTYBzkrK-NenD9ZbxW5KVwCAuWIS0-fFFiWUYwF4u9AHY91a7y1ajqkeOxPRfJ2GGPp2_fPmtnPfLOozEIZ1b5HzyHg0Ozo9ICeoN4OzfkA_3NAiH1a2Q4efzj-jhc1qKxOd8UN6UTxrTJfs7t28U3w5_Hixf1zOzo5O9vdmZc15NZRzJVVtGiFhXjFqRaOEIoYYCUKAYLKiBPKmySPBhklqbUUVAcYqELK5pDvFh0m3Hy-Xdl7nwqLpdB_d0sS1Dsbpv2-8a_UirLTAAoOSWeDtJNA-Cjvem-nNWe45I4TxFc7sm7tkMXwfbRr00qXadp3xNoxJE6oqWeEKVEZfP0Kvwhh9boUmTFSEY8zZf6n8TJb_ivBM4YmqY0gp2ua-Tgx64wk9eUJnT-iNJ_R1jnn1sC_3Eb8dkAEyASlf-YWNf1L_W_UXoFLAeg</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2392417025</pqid></control><display><type>article</type><title>Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants</title><source>DOAJ Directory of Open Access Journals</source><source>Springer Nature OA Free Journals</source><source>Nature Free</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Okazaki, Tetsuya ; Matsuura, Kaori ; Kasagi, Noriko ; Adachi, Kaori ; Kai, Masachika ; Okubo, Mariko ; Nishino, Ichizo ; Nanba, Eiji ; Maegaki, Yoshihiro</creator><creatorcontrib>Okazaki, Tetsuya ; Matsuura, Kaori ; Kasagi, Noriko ; Adachi, Kaori ; Kai, Masachika ; Okubo, Mariko ; Nishino, Ichizo ; Nanba, Eiji ; Maegaki, Yoshihiro</creatorcontrib><description>A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous
FKRP
variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive
FKRP
variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/s41439-020-0099-x</identifier><identifier>PMID: 32351701</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>692/420/2489/1512 ; 692/699/375/374 ; Age ; Antibodies ; Biomedical and Life Sciences ; Biomedicine ; Cloning ; Data Report ; Enzymes ; Gene Expression ; Gene Function ; Gene Therapy ; Genetics ; Genomes ; Genotype & phenotype ; Human Genetics ; Kinases ; Life Sciences ; Lymphatic system ; Molecular Medicine ; Muscular dystrophy ; Mutation ; Patients ; Proteins ; Thyroid cancer</subject><ispartof>Human genome variation, 2020-04, Vol.7 (1), p.12-12, Article 12</ispartof><rights>The Author(s) 2020</rights><rights>The Author(s) 2020.</rights><rights>The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c556t-d989caf780d643e7f9792a2a807707486320a80f20a21a483ee63920446078fb3</citedby><cites>FETCH-LOGICAL-c556t-d989caf780d643e7f9792a2a807707486320a80f20a21a483ee63920446078fb3</cites><orcidid>0000-0001-9452-112X ; 0000-0002-7564-4463</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171098/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171098/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,27924,27925,41120,42189,51576,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32351701$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03842245$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Okazaki, Tetsuya</creatorcontrib><creatorcontrib>Matsuura, Kaori</creatorcontrib><creatorcontrib>Kasagi, Noriko</creatorcontrib><creatorcontrib>Adachi, Kaori</creatorcontrib><creatorcontrib>Kai, Masachika</creatorcontrib><creatorcontrib>Okubo, Mariko</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Nanba, Eiji</creatorcontrib><creatorcontrib>Maegaki, Yoshihiro</creatorcontrib><title>Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><description>A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous
FKRP
variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive
FKRP
variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.</description><subject>692/420/2489/1512</subject><subject>692/699/375/374</subject><subject>Age</subject><subject>Antibodies</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cloning</subject><subject>Data Report</subject><subject>Enzymes</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Genotype & phenotype</subject><subject>Human Genetics</subject><subject>Kinases</subject><subject>Life Sciences</subject><subject>Lymphatic system</subject><subject>Molecular Medicine</subject><subject>Muscular dystrophy</subject><subject>Mutation</subject><subject>Patients</subject><subject>Proteins</subject><subject>Thyroid cancer</subject><issn>2054-345X</issn><issn>2054-345X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kstu1DAUhiMEolXpA7BBltjAInB8i-0NUtXSi5iqqCoSO8vNOBOXjB3sZOjs-g59Q54Ej1JKqQQbX7_zn-PjvyheYniHgcr3iWFGVQkESgClyusnxTYBzkrK-NenD9ZbxW5KVwCAuWIS0-fFFiWUYwF4u9AHY91a7y1ajqkeOxPRfJ2GGPp2_fPmtnPfLOozEIZ1b5HzyHg0Ozo9ICeoN4OzfkA_3NAiH1a2Q4efzj-jhc1qKxOd8UN6UTxrTJfs7t28U3w5_Hixf1zOzo5O9vdmZc15NZRzJVVtGiFhXjFqRaOEIoYYCUKAYLKiBPKmySPBhklqbUUVAcYqELK5pDvFh0m3Hy-Xdl7nwqLpdB_d0sS1Dsbpv2-8a_UirLTAAoOSWeDtJNA-Cjvem-nNWe45I4TxFc7sm7tkMXwfbRr00qXadp3xNoxJE6oqWeEKVEZfP0Kvwhh9boUmTFSEY8zZf6n8TJb_ivBM4YmqY0gp2ua-Tgx64wk9eUJnT-iNJ_R1jnn1sC_3Eb8dkAEyASlf-YWNf1L_W_UXoFLAeg</recordid><startdate>20200420</startdate><enddate>20200420</enddate><creator>Okazaki, Tetsuya</creator><creator>Matsuura, Kaori</creator><creator>Kasagi, Noriko</creator><creator>Adachi, Kaori</creator><creator>Kai, Masachika</creator><creator>Okubo, Mariko</creator><creator>Nishino, Ichizo</creator><creator>Nanba, Eiji</creator><creator>Maegaki, Yoshihiro</creator><general>Nature Publishing Group UK</general><general>Springer Nature B.V</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T3</scope><scope>7X7</scope><scope>7XB</scope><scope>8FD</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>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>1XC</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-9452-112X</orcidid><orcidid>https://orcid.org/0000-0002-7564-4463</orcidid></search><sort><creationdate>20200420</creationdate><title>Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants</title><author>Okazaki, Tetsuya ; Matsuura, Kaori ; Kasagi, Noriko ; Adachi, Kaori ; Kai, Masachika ; Okubo, Mariko ; Nishino, Ichizo ; Nanba, Eiji ; Maegaki, Yoshihiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c556t-d989caf780d643e7f9792a2a807707486320a80f20a21a483ee63920446078fb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>692/420/2489/1512</topic><topic>692/699/375/374</topic><topic>Age</topic><topic>Antibodies</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cloning</topic><topic>Data Report</topic><topic>Enzymes</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Genotype & phenotype</topic><topic>Human Genetics</topic><topic>Kinases</topic><topic>Life Sciences</topic><topic>Lymphatic system</topic><topic>Molecular Medicine</topic><topic>Muscular dystrophy</topic><topic>Mutation</topic><topic>Patients</topic><topic>Proteins</topic><topic>Thyroid cancer</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Okazaki, Tetsuya</creatorcontrib><creatorcontrib>Matsuura, Kaori</creatorcontrib><creatorcontrib>Kasagi, Noriko</creatorcontrib><creatorcontrib>Adachi, Kaori</creatorcontrib><creatorcontrib>Kai, Masachika</creatorcontrib><creatorcontrib>Okubo, Mariko</creatorcontrib><creatorcontrib>Nishino, Ichizo</creatorcontrib><creatorcontrib>Nanba, Eiji</creatorcontrib><creatorcontrib>Maegaki, Yoshihiro</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Human Genome Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Technology Research 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>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</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>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Access via ProQuest (Open Access)</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>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human genome variation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Okazaki, Tetsuya</au><au>Matsuura, Kaori</au><au>Kasagi, Noriko</au><au>Adachi, Kaori</au><au>Kai, Masachika</au><au>Okubo, Mariko</au><au>Nishino, Ichizo</au><au>Nanba, Eiji</au><au>Maegaki, Yoshihiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants</atitle><jtitle>Human genome variation</jtitle><stitle>Hum Genome Var</stitle><addtitle>Hum Genome Var</addtitle><date>2020-04-20</date><risdate>2020</risdate><volume>7</volume><issue>1</issue><spage>12</spage><epage>12</epage><pages>12-12</pages><artnum>12</artnum><issn>2054-345X</issn><eissn>2054-345X</eissn><abstract>A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous
FKRP
variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive
FKRP
variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>32351701</pmid><doi>10.1038/s41439-020-0099-x</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0001-9452-112X</orcidid><orcidid>https://orcid.org/0000-0002-7564-4463</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2054-345X |
| ispartof | Human genome variation, 2020-04, Vol.7 (1), p.12-12, Article 12 |
| issn | 2054-345X 2054-345X |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7171098 |
| source | DOAJ Directory of Open Access Journals; Springer Nature OA Free Journals; Nature Free; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | 692/420/2489/1512 692/699/375/374 Age Antibodies Biomedical and Life Sciences Biomedicine Cloning Data Report Enzymes Gene Expression Gene Function Gene Therapy Genetics Genomes Genotype & phenotype Human Genetics Kinases Life Sciences Lymphatic system Molecular Medicine Muscular dystrophy Mutation Patients Proteins Thyroid cancer |
| title | Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T02%3A07%3A39IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Duchenne%20muscular%20dystrophy%E2%80%93like%20phenotype%20in%20an%20LGMD2I%20patient%20with%20novel%20FKRP%20gene%20variants&rft.jtitle=Human%20genome%20variation&rft.au=Okazaki,%20Tetsuya&rft.date=2020-04-20&rft.volume=7&rft.issue=1&rft.spage=12&rft.epage=12&rft.pages=12-12&rft.artnum=12&rft.issn=2054-345X&rft.eissn=2054-345X&rft_id=info:doi/10.1038/s41439-020-0099-x&rft_dat=%3Cproquest_pubme%3E2392417025%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2392417025&rft_id=info:pmid/32351701&rfr_iscdi=true |