Coexistence of CMT-2D and distal SMA-V phenotypes in an italian family with a GARS gene mutation
An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heter...
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| Veröffentlicht in: | Neurology 2006-03, Vol.66 (5), p.752-754 |
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| container_title | Neurology |
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| creator | DEL BO, R LOCATELLI, F COMI, G. P CORTI, S SCARLATO, M GHEZZI, S PRELLE, A FAGIOLARI, G MOGGIO, M CARPO, M BRESOLIN, N |
| description | An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified. |
| doi_str_mv | 10.1212/01.wnl.0000201275.18875.ac |
| format | Article |
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A novel heterozygous missense GARS gene mutation (D500N) was identified.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/01.wnl.0000201275.18875.ac</identifier><identifier>PMID: 16534118</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Adolescent ; Biological and medical sciences ; Charcot-Marie-Tooth Disease - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Diseases of striated muscles. Neuromuscular diseases ; Female ; Glycine-tRNA Ligase - genetics ; Humans ; Italy ; Male ; Medical sciences ; Middle Aged ; Mutation ; Neurology ; Pedigree</subject><ispartof>Neurology, 2006-03, Vol.66 (5), p.752-754</ispartof><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c347t-d12d330a65024193beee8c1e7b9356a9bb48a6f16301e2b9a2069449342062833</citedby><cites>FETCH-LOGICAL-c347t-d12d330a65024193beee8c1e7b9356a9bb48a6f16301e2b9a2069449342062833</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27926,27927</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17599942$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16534118$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>DEL BO, R</creatorcontrib><creatorcontrib>LOCATELLI, F</creatorcontrib><creatorcontrib>COMI, G. P</creatorcontrib><creatorcontrib>CORTI, S</creatorcontrib><creatorcontrib>SCARLATO, M</creatorcontrib><creatorcontrib>GHEZZI, S</creatorcontrib><creatorcontrib>PRELLE, A</creatorcontrib><creatorcontrib>FAGIOLARI, G</creatorcontrib><creatorcontrib>MOGGIO, M</creatorcontrib><creatorcontrib>CARPO, M</creatorcontrib><creatorcontrib>BRESOLIN, N</creatorcontrib><title>Coexistence of CMT-2D and distal SMA-V phenotypes in an italian family with a GARS gene mutation</title><title>Neurology</title><addtitle>Neurology</addtitle><description>An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Female</subject><subject>Glycine-tRNA Ligase - genetics</subject><subject>Humans</subject><subject>Italy</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Pedigree</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkFFrFDEQx4Mo9qx-BQmCvu2ZSbLZxLfj1Cq0CLaKb3E2O2sju9lzs0e9b29qDy4PmTD_32Tgx9grEGuQIN8KWN-lYS3KkQJkU6_B2nJjeMRWUEtTGSV_PGarkttK2caesWc5_xaihI17ys7A1EoD2BX7uZ3ob8wLpUB86vn26qaS7zmmjneljQO_vtpU3_nultK0HHaUeUwl5rFksdQexzgc-F1cbjnyi83Xa_6LEvFxv-ASp_ScPelxyPTiWM_Zt48fbrafqssvF5-3m8sqKN0sVQeyU0qgqYXU4FRLRDYANa1TtUHXttqi6cEoASRbh1IYp7VTujykVeqcvXn4dzdPf_aUFz_GHGgYMNG0z940ja5B3YPvHsAwTznP1PvdHEecDx6Ev_frBfji15_8-v9-PYYy_PK4Zd-O1J1Gj0IL8PoIYA449DOmEPOJa2rnnJbqHz8IgoA</recordid><startdate>20060314</startdate><enddate>20060314</enddate><creator>DEL BO, R</creator><creator>LOCATELLI, F</creator><creator>COMI, G. 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P</au><au>CORTI, S</au><au>SCARLATO, M</au><au>GHEZZI, S</au><au>PRELLE, A</au><au>FAGIOLARI, G</au><au>MOGGIO, M</au><au>CARPO, M</au><au>BRESOLIN, N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Coexistence of CMT-2D and distal SMA-V phenotypes in an italian family with a GARS gene mutation</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>2006-03-14</date><risdate>2006</risdate><volume>66</volume><issue>5</issue><spage>752</spage><epage>754</epage><pages>752-754</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><coden>NEURAI</coden><abstract>An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA) phenotype with upper limb predominance, variable age at onset, degree of disability, and autosomal dominant inheritance is reported. A novel heterozygous missense GARS gene mutation (D500N) was identified.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>16534118</pmid><doi>10.1212/01.wnl.0000201275.18875.ac</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-3878 |
| ispartof | Neurology, 2006-03, Vol.66 (5), p.752-754 |
| issn | 0028-3878 1526-632X |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete; Alma/SFX Local Collection |
| subjects | Adolescent Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases Female Glycine-tRNA Ligase - genetics Humans Italy Male Medical sciences Middle Aged Mutation Neurology Pedigree |
| title | Coexistence of CMT-2D and distal SMA-V phenotypes in an italian family with a GARS gene mutation |
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