Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene
Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level...
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| Veröffentlicht in: | Neurology 2006-03, Vol.66 (5), p.745-747 |
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| container_end_page | 747 |
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| container_issue | 5 |
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| container_title | Neurology |
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| creator | KABZINSKA, D DRAC, H SHERMAN, D. L KOSTERA-PRUSZCZYK, A BROPHY, P. J KOCHANSKI, A HAUSMANOWA-PETRUSEWICZ, I |
| description | Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease. |
| doi_str_mv | 10.1212/01.wnl.0000201269.46071.35 |
| format | Article |
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In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/01.wnl.0000201269.46071.35</identifier><identifier>PMID: 16534116</identifier><identifier>CODEN: NEURAI</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Age of Onset ; Biological and medical sciences ; Charcot-Marie-Tooth Disease - genetics ; Charcot-Marie-Tooth Disease - pathology ; Child ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Diseases of striated muscles. Neuromuscular diseases ; Exons ; Genetic Carrier Screening ; Humans ; Male ; Medical sciences ; Membrane Proteins - genetics ; Neurology ; Sequence Deletion ; Sural Nerve - pathology</subject><ispartof>Neurology, 2006-03, Vol.66 (5), p.745-747</ispartof><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c347t-b7a620d2f22c96279b950d1454c5003e3548cbbe012009d9ca57d1906e1662773</citedby><cites>FETCH-LOGICAL-c347t-b7a620d2f22c96279b950d1454c5003e3548cbbe012009d9ca57d1906e1662773</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17599940$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16534116$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KABZINSKA, D</creatorcontrib><creatorcontrib>DRAC, H</creatorcontrib><creatorcontrib>SHERMAN, D. 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In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.</description><subject>Age of Onset</subject><subject>Biological and medical sciences</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Charcot-Marie-Tooth Disease - pathology</subject><subject>Child</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Exons</subject><subject>Genetic Carrier Screening</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Neurology</subject><subject>Sequence Deletion</subject><subject>Sural Nerve - pathology</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>eNpFkEtv1DAQgK2Kii6Fv1BZSHBLOuPnmhtaUUAq6oNW6s1ynEk3KJts40Sw_74uXWnnMof55vUx9hGhRIHiHLD823cl5BCAwrhSGbBYSn3EFqiFKYwUD2_YIteXhVza5Ql7l9IfgFy07i07QaOlQjQLdrNahzEOU_ErjC0Vd8Mwrfm02xJXF7xuE4VEPIY5Uc2rHf8tnWvSP4XAN_MUpnboedvzaU38-vaBP1JP79lxE7pEH_b5lN1ffLtb_Sgur77_XH29LKJUdioqG4yAWjRCRGfyWZXTUKPSKmoASVKrZawqyg8CuNrFoG2NDgyhybiVp-zz69ztODzNlCa_aVOkrgs9DXPyxlqlUcsMfnkF4zikNFLjt2O7CePOI_gXoR7QZ6H-INT_F-qlzs1n-y1ztaH60Lo3mIFPeyCkGLpmDH1s04Gz2jmnQD4DjBl8Cg</recordid><startdate>20060314</startdate><enddate>20060314</enddate><creator>KABZINSKA, D</creator><creator>DRAC, H</creator><creator>SHERMAN, D. 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Neuromuscular diseases</topic><topic>Exons</topic><topic>Genetic Carrier Screening</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Neurology</topic><topic>Sequence Deletion</topic><topic>Sural Nerve - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KABZINSKA, D</creatorcontrib><creatorcontrib>DRAC, H</creatorcontrib><creatorcontrib>SHERMAN, D. L</creatorcontrib><creatorcontrib>KOSTERA-PRUSZCZYK, A</creatorcontrib><creatorcontrib>BROPHY, P. 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J</au><au>KOCHANSKI, A</au><au>HAUSMANOWA-PETRUSEWICZ, I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>2006-03-14</date><risdate>2006</risdate><volume>66</volume><issue>5</issue><spage>745</spage><epage>747</epage><pages>745-747</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><coden>NEURAI</coden><abstract>Charcot-Marie-Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>16534116</pmid><doi>10.1212/01.wnl.0000201269.46071.35</doi><tpages>3</tpages></addata></record> |
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| language | eng |
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| source | MEDLINE; Alma/SFX Local Collection; Journals@Ovid Complete |
| subjects | Age of Onset Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases Exons Genetic Carrier Screening Humans Male Medical sciences Membrane Proteins - genetics Neurology Sequence Deletion Sural Nerve - pathology |
| title | Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene |
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