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The clinical features of the two conditions are similar, apart from minor quantitative differences. The family history is the major tool for the differential diagnosis. The possibility of the detection of heterozygotes by electromyography is discussed.<\/jats:p>","DOI":"10.1002\/mus.880030212","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T07:55:56Z","timestamp":1104566156000},"page":"176-180","source":"Crossref","is-referenced-by-count":11,"title":["Autosomal recessive generalized myotonia"],"prefix":"10.1002","volume":"3","author":[{"given":"H.","family":"Zellweger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Pavone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Biondi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Cimino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Gullotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Ionasescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Mollica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Schieken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"689","article-title":"Forme r\u00e9cessive de myotonie hypertrophique","volume":"237","author":"Bady B","year":"1977","journal-title":"Lyon M\u00e9dical"},{"key":"e_1_2_1_3_2","volume-title":"Myotonia Congenita and Syndromes Associated with Myotonia","author":"Becker PE","year":"1977"},{"key":"e_1_2_1_4_2","first-page":"52","article-title":"Myotonie cong\u00e9nitale, faiblesse musculaire corrig\u00e9e par l'\u00e9xercise et hypertrophie musculaire","volume":"129","author":"Castaigne P","year":"1973","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_1_5_2","volume-title":"Dystrophia Myotonica and Related Disorders","author":"Caughey JE","year":"1963"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(76)90116-7"},{"key":"e_1_2_1_7_2","volume-title":"Muscle Biopsy: A Modern Approach","author":"Dubowitz V","year":"1973"},{"key":"e_1_2_1_8_2","first-page":"607","article-title":"Electron microscopical study of a family with myotonia congenita","volume":"99","author":"Fisher ER","year":"1975","journal-title":"Arch Pathol"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.213"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.47.2.225"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01496409"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880020205"},{"key":"e_1_2_1_13_2","first-page":"546","article-title":"Faiblesse musculaire corrig\u00e9e par l'exercise accompagnant une hypertrophie musculaire avec myotonie","volume":"112","author":"Sabouraud O","year":"1965","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1977.00500150057011"},{"key":"e_1_2_1_15_2","first-page":"35","article-title":"Recessive generalized myotonia","volume":"25","author":"Wadia RS","year":"1977","journal-title":"Neurol India"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880030212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880030212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T14:14:09Z","timestamp":1699798449000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880030212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,3]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,3]]}},"alternative-id":["10.1002\/mus.880030212"],"URL":"https:\/\/doi.org\/10.1002\/mus.880030212","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,3]]}}}