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GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
Highlights • In the Bulgarian Roma/Gypsy population p.I618T is the founder mutation accounting for 99% of mutant alleles. • Distal muscle weakness in upper limbs was the initial presentation of the disease in three of our patients. • Genetic modifying factors possibly account for significant variati...
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| Published in: | Neuromuscular disorders : NMD 2015-09, Vol.25 (9), p.713-718 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , |
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| container_end_page | 718 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Chamova, Teodora Guergueltcheva, Velina Gospodinova, Mariana Krause, Sabine Cirak, Sebahattin Kaprelyan, Ara Angelova, Lyudmila Mihaylova, Violeta Bichev, Stoyan Chandler, David Naydenov, Emanuil Grudkova, Margarita Djukmedzhiev, Presian Voit, Thomas Pogoryelova, Oksana Lochmüller, Hanns Goebel, Hans H Bahlo, Melanie Kalaydjieva, Luba Tournev, Ivailo |
| description | Highlights • In the Bulgarian Roma/Gypsy population p.I618T is the founder mutation accounting for 99% of mutant alleles. • Distal muscle weakness in upper limbs was the initial presentation of the disease in three of our patients. • Genetic modifying factors possibly account for significant variation in disease severity among the affected. |
| doi_str_mv | 10.1016/j.nmd.2015.07.004 |
| format | article |
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All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-e16ca49970a34b7057b6c9e4d6e3cf111c9ce0612cb5ff4e763434862dd20f303</citedby><cites>FETCH-LOGICAL-c408t-e16ca49970a34b7057b6c9e4d6e3cf111c9ce0612cb5ff4e763434862dd20f303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26231298$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chamova, Teodora</creatorcontrib><creatorcontrib>Guergueltcheva, Velina</creatorcontrib><creatorcontrib>Gospodinova, Mariana</creatorcontrib><creatorcontrib>Krause, Sabine</creatorcontrib><creatorcontrib>Cirak, Sebahattin</creatorcontrib><creatorcontrib>Kaprelyan, Ara</creatorcontrib><creatorcontrib>Angelova, Lyudmila</creatorcontrib><creatorcontrib>Mihaylova, Violeta</creatorcontrib><creatorcontrib>Bichev, Stoyan</creatorcontrib><creatorcontrib>Chandler, David</creatorcontrib><creatorcontrib>Naydenov, Emanuil</creatorcontrib><creatorcontrib>Grudkova, Margarita</creatorcontrib><creatorcontrib>Djukmedzhiev, Presian</creatorcontrib><creatorcontrib>Voit, Thomas</creatorcontrib><creatorcontrib>Pogoryelova, Oksana</creatorcontrib><creatorcontrib>Lochmüller, Hanns</creatorcontrib><creatorcontrib>Goebel, Hans H</creatorcontrib><creatorcontrib>Bahlo, Melanie</creatorcontrib><creatorcontrib>Kalaydjieva, Luba</creatorcontrib><creatorcontrib>Tournev, Ivailo</creatorcontrib><title>GNE myopathy in Roma patients homozygous for the p.I618T founder mutation</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Highlights • In the Bulgarian Roma/Gypsy population p.I618T is the founder mutation accounting for 99% of mutant alleles. • Distal muscle weakness in upper limbs was the initial presentation of the disease in three of our patients. • Genetic modifying factors possibly account for significant variation in disease severity among the affected.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Child</subject><subject>Disease Progression</subject><subject>Distal Myopathies - complications</subject><subject>Distal Myopathies - ethnology</subject><subject>Distal Myopathies - genetics</subject><subject>Distal Myopathies - physiopathology</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Founder Effect</subject><subject>Founder mutation</subject><subject>GNE myopathy</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Multienzyme Complexes - genetics</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Roma</subject><subject>Young Adult</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNp9kU1v1DAQhi1ERZfCD-CCfOSSMP7YcSIkJFSVslJVpLacrawzYb0k8WInlcKvx6stHDhwskZ63leeZxh7I6AUIPD9vhyHtpQg1iWYEkA_YytRGVVIhfo5W0GNUFQ14jl7mdIeMmjQvGDnEqUSsq5WbHN9e8WHJRyaabdwP_K7MDQ8T57GKfFdGMKv5XuYE-9C5NOO-KHcoKge8jyPLUU-zFOmw_iKnXVNn-j103vBvn2-erj8Utx8vd5cfropnIZqKkiga3RdG2iU3hpYmy26mnSLpFwnhHC1I0Ah3XbddZoMKq10hbJtJXQK1AV7d-o9xPBzpjTZwSdHfd-MlP9pRe7Mm6JZZ1ScUBdDSpE6e4h-aOJiBdijQbu32aA9GrRgbDaYM2-f6uftQO3fxB9lGfhwAigv-egp2uSyLEetj-Qm2wb_3_qP_6Rd70fvmv4HLZT2YY5jtmeFTdKCvT-e8HhBkXdClJX6DaILlIQ</recordid><startdate>20150901</startdate><enddate>20150901</enddate><creator>Chamova, Teodora</creator><creator>Guergueltcheva, Velina</creator><creator>Gospodinova, Mariana</creator><creator>Krause, Sabine</creator><creator>Cirak, Sebahattin</creator><creator>Kaprelyan, Ara</creator><creator>Angelova, Lyudmila</creator><creator>Mihaylova, Violeta</creator><creator>Bichev, Stoyan</creator><creator>Chandler, David</creator><creator>Naydenov, Emanuil</creator><creator>Grudkova, Margarita</creator><creator>Djukmedzhiev, Presian</creator><creator>Voit, Thomas</creator><creator>Pogoryelova, Oksana</creator><creator>Lochmüller, Hanns</creator><creator>Goebel, Hans H</creator><creator>Bahlo, Melanie</creator><creator>Kalaydjieva, Luba</creator><creator>Tournev, Ivailo</creator><general>Elsevier B.V</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>20150901</creationdate><title>GNE myopathy in Roma patients homozygous for the p.I618T founder mutation</title><author>Chamova, Teodora ; Guergueltcheva, Velina ; Gospodinova, Mariana ; Krause, Sabine ; Cirak, Sebahattin ; Kaprelyan, Ara ; Angelova, Lyudmila ; Mihaylova, Violeta ; Bichev, Stoyan ; Chandler, David ; Naydenov, Emanuil ; Grudkova, Margarita ; Djukmedzhiev, Presian ; Voit, Thomas ; Pogoryelova, Oksana ; Lochmüller, Hanns ; Goebel, Hans H ; Bahlo, Melanie ; Kalaydjieva, Luba ; Tournev, Ivailo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c408t-e16ca49970a34b7057b6c9e4d6e3cf111c9ce0612cb5ff4e763434862dd20f303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Child</topic><topic>Disease Progression</topic><topic>Distal Myopathies - complications</topic><topic>Distal Myopathies - ethnology</topic><topic>Distal Myopathies - genetics</topic><topic>Distal Myopathies - physiopathology</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Founder Effect</topic><topic>Founder mutation</topic><topic>GNE myopathy</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Multienzyme Complexes - genetics</topic><topic>Mutation</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Roma</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chamova, Teodora</creatorcontrib><creatorcontrib>Guergueltcheva, Velina</creatorcontrib><creatorcontrib>Gospodinova, Mariana</creatorcontrib><creatorcontrib>Krause, Sabine</creatorcontrib><creatorcontrib>Cirak, Sebahattin</creatorcontrib><creatorcontrib>Kaprelyan, Ara</creatorcontrib><creatorcontrib>Angelova, Lyudmila</creatorcontrib><creatorcontrib>Mihaylova, Violeta</creatorcontrib><creatorcontrib>Bichev, Stoyan</creatorcontrib><creatorcontrib>Chandler, David</creatorcontrib><creatorcontrib>Naydenov, Emanuil</creatorcontrib><creatorcontrib>Grudkova, Margarita</creatorcontrib><creatorcontrib>Djukmedzhiev, Presian</creatorcontrib><creatorcontrib>Voit, Thomas</creatorcontrib><creatorcontrib>Pogoryelova, Oksana</creatorcontrib><creatorcontrib>Lochmüller, Hanns</creatorcontrib><creatorcontrib>Goebel, Hans H</creatorcontrib><creatorcontrib>Bahlo, Melanie</creatorcontrib><creatorcontrib>Kalaydjieva, Luba</creatorcontrib><creatorcontrib>Tournev, Ivailo</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>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chamova, Teodora</au><au>Guergueltcheva, Velina</au><au>Gospodinova, Mariana</au><au>Krause, Sabine</au><au>Cirak, Sebahattin</au><au>Kaprelyan, Ara</au><au>Angelova, Lyudmila</au><au>Mihaylova, Violeta</au><au>Bichev, Stoyan</au><au>Chandler, David</au><au>Naydenov, Emanuil</au><au>Grudkova, Margarita</au><au>Djukmedzhiev, Presian</au><au>Voit, Thomas</au><au>Pogoryelova, Oksana</au><au>Lochmüller, Hanns</au><au>Goebel, Hans H</au><au>Bahlo, Melanie</au><au>Kalaydjieva, Luba</au><au>Tournev, Ivailo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>GNE myopathy in Roma patients homozygous for the p.I618T founder mutation</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>2015-09-01</date><risdate>2015</risdate><volume>25</volume><issue>9</issue><spage>713</spage><epage>718</epage><pages>713-718</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Highlights • In the Bulgarian Roma/Gypsy population p.I618T is the founder mutation accounting for 99% of mutant alleles. • Distal muscle weakness in upper limbs was the initial presentation of the disease in three of our patients. • Genetic modifying factors possibly account for significant variation in disease severity among the affected.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>26231298</pmid><doi>10.1016/j.nmd.2015.07.004</doi><tpages>6</tpages></addata></record> |
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| identifier | ISSN: 0960-8966 |
| ispartof | Neuromuscular disorders : NMD, 2015-09, Vol.25 (9), p.713-718 |
| issn | 0960-8966 1873-2364 |
| language | eng |
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| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | Adolescent Adult Child Disease Progression Distal Myopathies - complications Distal Myopathies - ethnology Distal Myopathies - genetics Distal Myopathies - physiopathology Female Follow-Up Studies Founder Effect Founder mutation GNE myopathy Homozygote Humans Male Multienzyme Complexes - genetics Mutation Neurology Pedigree Phenotype Roma Young Adult |
| title | GNE myopathy in Roma patients homozygous for the p.I618T founder mutation |
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