{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T17:10:12Z","timestamp":1700241012023},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,5,7]],"date-time":"2003-05-07T00:00:00Z","timestamp":1052265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2003,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A Japanese man with a negative family history of paramyotonia congenita (PMC) was evaluated for symptoms of cold\u2010induced weakness and stiffness. Exercise testing revealed findings characteristic of PMC, and a genetic analysis was therefore performed. A well\u2010known sodium channel mutation for PMC (T1313M) was identified in the patient, but was absent in his biological parents. These data demonstrate the occurrence of a de novo mutation, suggesting that evaluation for PMC should be performed in patients with typical symptoms even if the family history is negative. Muscle Nerve 28: 232\u2013235, 2003<\/jats:p>","DOI":"10.1002\/mus.10396","type":"journal-article","created":{"date-parts":[[2003,7,15]],"date-time":"2003-07-15T10:09:26Z","timestamp":1058263766000},"page":"232-235","source":"Crossref","is-referenced-by-count":6,"title":["Paramyotonia congenita due to a de novo mutation: A case report"],"prefix":"10.1002","volume":"28","author":[{"given":"Takayasu","family":"Fukudome","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Izumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidenori","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiro","family":"Yoshimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun\u2010Ichi","family":"Sakoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noritoshi","family":"Shibuya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,5,7]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880180418"},{"key":"e_1_2_5_3_2","first-page":"425","article-title":"Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment","volume":"5","author":"Krawczak M","year":"1991","journal-title":"Hum Genet"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-4598(200007)23:7<1089::AID-MUS12>3.0.CO;2-Q"},{"key":"e_1_2_5_5_2","first-page":"1303","volume-title":"Myology","author":"Lehmann\u2010Horn F","year":"1994"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90151-2"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090805"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330312"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880050909"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880100704"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.10396","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.10396","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T16:47:58Z","timestamp":1700239678000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.10396"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,7]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,8]]}},"alternative-id":["10.1002\/mus.10396"],"URL":"https:\/\/doi.org\/10.1002\/mus.10396","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,7]]}}}