Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation
Mutation of the myelin protein zero (MPZ) gene is associated with a small number of Charcot-Marie-Tooth (CMT) patients. We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130...
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| Veröffentlicht in: | Journal of the neurological sciences 1997-12, Vol.153 (1), p.106-109 |
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| container_title | Journal of the neurological sciences |
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| creator | Tachi, Nobutada Kozuka, Naoki Ohya, Kazuhiro Chiba, Shunzo Sasaki, Kimio |
| description | Mutation of the myelin protein zero (MPZ) gene is associated with a small number of Charcot-Marie-Tooth (CMT) patients. We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy. Present and previously reported investigations suggest that the pathological phenotypes of peripheral nerve are probably related to the mutations of the MPZ gene. |
| doi_str_mv | 10.1016/S0022-510X(97)00202-5 |
| format | Article |
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We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy. Present and previously reported investigations suggest that the pathological phenotypes of peripheral nerve are probably related to the mutations of the MPZ gene.</description><identifier>ISSN: 0022-510X</identifier><identifier>EISSN: 1878-5883</identifier><identifier>DOI: 10.1016/S0022-510X(97)00202-5</identifier><identifier>PMID: 9455987</identifier><identifier>CODEN: JNSCAG</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Amino Acid Substitution - genetics ; Amino Acid Substitution - physiology ; 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. 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We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy. Present and previously reported investigations suggest that the pathological phenotypes of peripheral nerve are probably related to the mutations of the MPZ gene.</description><subject>Amino Acid Substitution - genetics</subject><subject>Amino Acid Substitution - physiology</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>DNA - analysis</subject><subject>DNA - isolation & purification</subject><subject>Female</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mutation of the Po gene</subject><subject>Myelin Proteins - deficiency</subject><subject>Myelin Proteins - genetics</subject><subject>Neurology</subject><subject>Peripheral Nerves - pathology</subject><subject>Sural Nerve - pathology</subject><subject>Tomaculous neuropathy</subject><issn>0022-510X</issn><issn>1878-5883</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1v1DAQhi1EVbaFn1ApB4TgEJgk_jyhagUFqVUPLBISB2vqHbNGSbzYCdXy63G7q732NHo9z9jjh7GLBt430MgP3wDathYN_Hhr1LsSoKRnbNFopWuhdfecLY7IC3aW828AkFqbU3ZquBBGqwX7uYoDurmPc65GmlPc4rTZVWGslhtMLk71DaZA9SrGaVOtQybMVN2HEoYd9YXbpjhRqf8oxeoXjVQN84RTiONLduKxz_TqUM_Z98-fVssv9fXt1dfl5XXteAtTzTmCIQ94J4TDUlrlvMemE50h6Y2WTgoFggMXUracnPbed4TSlEOk7py92d9bVvkzU57sELKjvseRyr-sMoIrBeZJsJGd5AZ4AcUedCnmnMjbbQoDpp1twD7Yt4_27YNaa5R9tG9Fmbs4PDDfDbQ-Th10l_7rQx-zw94nHF3IR6wFJbWQBfu4x6hY-xso2ewCjY7WIZGb7DqGJxb5D6KWokQ</recordid><startdate>19971209</startdate><enddate>19971209</enddate><creator>Tachi, Nobutada</creator><creator>Kozuka, Naoki</creator><creator>Ohya, Kazuhiro</creator><creator>Chiba, Shunzo</creator><creator>Sasaki, Kimio</creator><general>Elsevier B.V</general><general>Elsevier Science</general><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>7TK</scope><scope>7X8</scope></search><sort><creationdate>19971209</creationdate><title>Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation</title><author>Tachi, Nobutada ; Kozuka, Naoki ; Ohya, Kazuhiro ; Chiba, Shunzo ; Sasaki, Kimio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c420t-44a09ef0ab55ca0ab27cffa13539e6f986c6570540456624ec8fff3ea69054ae3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Amino Acid Substitution - genetics</topic><topic>Amino Acid Substitution - physiology</topic><topic>Biological and medical sciences</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Charcot-Marie-Tooth Disease - pathology</topic><topic>Child</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>DNA - analysis</topic><topic>DNA - isolation & purification</topic><topic>Female</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Mutation of the Po gene</topic><topic>Myelin Proteins - deficiency</topic><topic>Myelin Proteins - genetics</topic><topic>Neurology</topic><topic>Peripheral Nerves - pathology</topic><topic>Sural Nerve - pathology</topic><topic>Tomaculous neuropathy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tachi, Nobutada</creatorcontrib><creatorcontrib>Kozuka, Naoki</creatorcontrib><creatorcontrib>Ohya, Kazuhiro</creatorcontrib><creatorcontrib>Chiba, Shunzo</creatorcontrib><creatorcontrib>Sasaki, Kimio</creatorcontrib><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>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of the neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tachi, Nobutada</au><au>Kozuka, Naoki</au><au>Ohya, Kazuhiro</au><au>Chiba, Shunzo</au><au>Sasaki, Kimio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation</atitle><jtitle>Journal of the neurological sciences</jtitle><addtitle>J Neurol Sci</addtitle><date>1997-12-09</date><risdate>1997</risdate><volume>153</volume><issue>1</issue><spage>106</spage><epage>109</epage><pages>106-109</pages><issn>0022-510X</issn><eissn>1878-5883</eissn><coden>JNSCAG</coden><abstract>Mutation of the myelin protein zero (MPZ) gene is associated with a small number of Charcot-Marie-Tooth (CMT) patients. We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy. Present and previously reported investigations suggest that the pathological phenotypes of peripheral nerve are probably related to the mutations of the MPZ gene.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>9455987</pmid><doi>10.1016/S0022-510X(97)00202-5</doi><tpages>4</tpages></addata></record> |
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| subjects | Amino Acid Substitution - genetics Amino Acid Substitution - physiology 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 DNA - analysis DNA - isolation & purification Female Humans Medical sciences Mutation of the Po gene Myelin Proteins - deficiency Myelin Proteins - genetics Neurology Peripheral Nerves - pathology Sural Nerve - pathology Tomaculous neuropathy |
| title | Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation |
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