Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis
Familial hypokalemic periodic paralysis is an autosomal dominant disorder. Recently, three predominant mutations were found in the muscle dihydropyridine‐sensitive calcium channel alpha 1‐subunit gene. We present a Japanese family that displays one of these, the Arg1239His mutation. All the affected...
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| Veröffentlicht in: | Psychiatry and clinical neurosciences 2001-10, Vol.55 (5), p.539-541 |
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| creator | Kusumi, Masayoshi Kumada, Hiroko Adachi, Yoshiki Nakashima, Kenji |
| description | Familial hypokalemic periodic paralysis is an autosomal dominant disorder. Recently, three predominant mutations were found in the muscle dihydropyridine‐sensitive calcium channel alpha 1‐subunit gene. We present a Japanese family that displays one of these, the Arg1239His mutation. All the affected individuals of this family displayed this mutation. Two cases had a history of recurrent episodes of muscle weakness and difficulty in running before their first paralytic attack. It is suggested that there are no racial differences with this mutation, and that mild muscle weakness occurs not only after but also preceding the first attack. |
| doi_str_mv | 10.1046/j.1440-1819.2001.00902.x |
| format | Article |
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Recently, three predominant mutations were found in the muscle dihydropyridine‐sensitive calcium channel alpha 1‐subunit gene. We present a Japanese family that displays one of these, the Arg1239His mutation. All the affected individuals of this family displayed this mutation. Two cases had a history of recurrent episodes of muscle weakness and difficulty in running before their first paralytic attack. It is suggested that there are no racial differences with this mutation, and that mild muscle weakness occurs not only after but also preceding the first attack.</description><identifier>ISSN: 1323-1316</identifier><identifier>EISSN: 1440-1819</identifier><identifier>DOI: 10.1046/j.1440-1819.2001.00902.x</identifier><identifier>PMID: 11555352</identifier><language>eng</language><publisher>Melbourne, Australia: Blackwell Science Pty</publisher><subject>Adult ; Amino Acid Substitution - genetics ; Arginine - genetics ; Biological and medical sciences ; CACNL1A3 gene ; Calcium Channels - genetics ; Child ; Codon ; Female ; Histidine - genetics ; Humans ; hypokalemic periodic paralysis ; Hypokalemic Periodic Paralysis - genetics ; Male ; Medical sciences ; Muscle Weakness - genetics ; Nervous system involvement in other diseases. 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Recently, three predominant mutations were found in the muscle dihydropyridine‐sensitive calcium channel alpha 1‐subunit gene. We present a Japanese family that displays one of these, the Arg1239His mutation. All the affected individuals of this family displayed this mutation. Two cases had a history of recurrent episodes of muscle weakness and difficulty in running before their first paralytic attack. It is suggested that there are no racial differences with this mutation, and that mild muscle weakness occurs not only after but also preceding the first attack.</description><subject>Adult</subject><subject>Amino Acid Substitution - genetics</subject><subject>Arginine - genetics</subject><subject>Biological and medical sciences</subject><subject>CACNL1A3 gene</subject><subject>Calcium Channels - genetics</subject><subject>Child</subject><subject>Codon</subject><subject>Female</subject><subject>Histidine - genetics</subject><subject>Humans</subject><subject>hypokalemic periodic paralysis</subject><subject>Hypokalemic Periodic Paralysis - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscle Weakness - genetics</subject><subject>Nervous system involvement in other diseases. Miscellaneous</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>permanent muscle weakness</subject><subject>Point Mutation - genetics</subject><issn>1323-1316</issn><issn>1440-1819</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkE1v1DAQhi0EoqXwF5AvcEuYiWPHlrhUq0JB5eMAFy6W15mAt8km2Bu1-fc47IpeOfm1_Mx45mGMI5QItXqzK7GuoUCNpqwAsAQwUJX3j9j5v4fHOYtKFChQnbFnKe0AQAiFT9kZopRSyOqc_fg0J98TvyN3u6eUeNhzxz-6yeUb8c4NoV_42PHL-BMrYa5D4sN8cIcw7vmvZRpvXU9D8HyiGMZ2DS66fkkhPWdPOtcnenE6L9j3d1ffNtfFzZf3HzaXN4WXecBCS1Fr04LSrSDRirbypF1OqpONUQZBg3QKiSrZeFPXAqptS7UyW9eRkuKCvT72neL4e6Z0sENInvo-rzDOyTaI2jSAGdRH0McxpUidnWIYXFwsgl292p1d9dlVn1292r9e7X0ufXn6Y94O1D4UnkRm4NUJcMm7votu70N64GpEhEZn7u2Ruws9Lf89gP26-ZyD-APoApJU</recordid><startdate>200110</startdate><enddate>200110</enddate><creator>Kusumi, Masayoshi</creator><creator>Kumada, Hiroko</creator><creator>Adachi, Yoshiki</creator><creator>Nakashima, Kenji</creator><general>Blackwell Science Pty</general><general>Blackwell Publishing</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>7X8</scope></search><sort><creationdate>200110</creationdate><title>Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis</title><author>Kusumi, Masayoshi ; Kumada, Hiroko ; Adachi, Yoshiki ; Nakashima, Kenji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5132-853489d068d3e3d3d2ce8ae3d6f5796910805a61ee257c944302bde469bafe653</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adult</topic><topic>Amino Acid Substitution - genetics</topic><topic>Arginine - genetics</topic><topic>Biological and medical sciences</topic><topic>CACNL1A3 gene</topic><topic>Calcium Channels - genetics</topic><topic>Child</topic><topic>Codon</topic><topic>Female</topic><topic>Histidine - genetics</topic><topic>Humans</topic><topic>hypokalemic periodic paralysis</topic><topic>Hypokalemic Periodic Paralysis - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscle Weakness - genetics</topic><topic>Nervous system involvement in other diseases. Miscellaneous</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>permanent muscle weakness</topic><topic>Point Mutation - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kusumi, Masayoshi</creatorcontrib><creatorcontrib>Kumada, Hiroko</creatorcontrib><creatorcontrib>Adachi, Yoshiki</creatorcontrib><creatorcontrib>Nakashima, Kenji</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>MEDLINE - Academic</collection><jtitle>Psychiatry and clinical neurosciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kusumi, Masayoshi</au><au>Kumada, Hiroko</au><au>Adachi, Yoshiki</au><au>Nakashima, Kenji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis</atitle><jtitle>Psychiatry and clinical neurosciences</jtitle><addtitle>Psychiatry Clin Neurosci</addtitle><date>2001-10</date><risdate>2001</risdate><volume>55</volume><issue>5</issue><spage>539</spage><epage>541</epage><pages>539-541</pages><issn>1323-1316</issn><eissn>1440-1819</eissn><abstract>Familial hypokalemic periodic paralysis is an autosomal dominant disorder. Recently, three predominant mutations were found in the muscle dihydropyridine‐sensitive calcium channel alpha 1‐subunit gene. We present a Japanese family that displays one of these, the Arg1239His mutation. All the affected individuals of this family displayed this mutation. Two cases had a history of recurrent episodes of muscle weakness and difficulty in running before their first paralytic attack. It is suggested that there are no racial differences with this mutation, and that mild muscle weakness occurs not only after but also preceding the first attack.</abstract><cop>Melbourne, Australia</cop><pub>Blackwell Science Pty</pub><pmid>11555352</pmid><doi>10.1046/j.1440-1819.2001.00902.x</doi><tpages>3</tpages></addata></record> |
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| ispartof | Psychiatry and clinical neurosciences, 2001-10, Vol.55 (5), p.539-541 |
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| language | eng |
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| source | Wiley Free Content; MEDLINE; Freely Accessible Japanese Titles; Wiley Online Library Journals Frontfile Complete; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adult Amino Acid Substitution - genetics Arginine - genetics Biological and medical sciences CACNL1A3 gene Calcium Channels - genetics Child Codon Female Histidine - genetics Humans hypokalemic periodic paralysis Hypokalemic Periodic Paralysis - genetics Male Medical sciences Muscle Weakness - genetics Nervous system involvement in other diseases. Miscellaneous Neurology Pedigree permanent muscle weakness Point Mutation - genetics |
| title | Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis |
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