{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:55:33Z","timestamp":1760745333147},"reference-count":12,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T00:00:00Z","timestamp":1442534400000},"content-version":"unspecified","delay-in-days":9725,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[1989,2]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:p>The neurological and ophthalmological investigation of 602 members of 88 Saguenay kindreds affected by myotonic dystrophy (MyD) revealed 130 persons with a partial syndrome. These patients, whose average age was 34.1 years, showed different abnormalities such as particular ophthalmic and\/or neuro-muscular signs, suggesting MyD in the absence of myotonia or typical lens abnormalities. After an average period of 2,4 years, 44 of these 130 patients were reassessed by the same neurologists and ophthalmologists. Thirty still had a partial syndrome, 8 showed a typical form of MyD and 6 no longer presented any identifiable anomaly. This preliminary follow-up study of the partial MyD syndrome did not allow us to identify any clinical anomaly from which the presence of the MyD gene could be predicted in a significant way. It furthermore suggested that the identification of equivocal or unspecific signs among these patients can sometimes lead to misdiagnosis. This must be taken into account when providing genetic counselling. It furthermore indicates that the use of DNA probes is essential for a reliable identification of asymptomatic MyD gene carriers.<\/jats:p>","DOI":"10.1017\/s0317167100028614","type":"journal-article","created":{"date-parts":[[2016,7,28]],"date-time":"2016-07-28T11:40:08Z","timestamp":1469706008000},"page":"99-103","source":"Crossref","is-referenced-by-count":7,"title":["Partial Syndrome of Myotonic Dystrophy: Clinical Presentation and Follow-up"],"prefix":"10.1017","volume":"16","author":[{"given":"Jean","family":"Mathieu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Simard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"De Braekeleer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camil","family":"Boily","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e8le","family":"Desch\u00eanes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2015,9,18]]},"reference":[{"key":"S0317167100028614_ref010","first-page":"675","article-title":"Linkage of myotonic dys-trophy and apoE in a French Canadian isolate","volume":"40","author":"Laberge","year":"1985","journal-title":"Cytogenet Cell Genet"},{"key":"S0317167100028614_ref009","volume-title":"Randomization tests","author":"Edginton","year":"1980"},{"key":"S0317167100028614_ref007","first-page":"510","volume-title":"Disorders of voluntary muscle","author":"Walton","year":"1981"},{"key":"S0317167100028614_ref004","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/95.4.761"},{"key":"S0317167100028614_ref002","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01134.x"},{"key":"S0317167100028614_ref012","first-page":"137","article-title":"A new DNA probe tightly linked to myotonic muscular dystrophy (Abstract)","volume":"20","author":"Roses","year":"1986","journal-title":"Ann Neurol"},{"key":"S0317167100028614_ref005","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110606"},{"key":"S0317167100028614_ref008","first-page":"14","author":"Harper","year":"1979"},{"key":"S0317167100028614_ref011","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273455"},{"key":"S0317167100028614_ref006","volume-title":"Rapport de recherche","author":"Veillette","year":"1986"},{"key":"S0317167100028614_ref003","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.33.3.279"},{"key":"S0317167100028614_ref001","first-page":"237","article-title":"D\u00e9pistage des h\u00e9t\u00e9rozygotes dans une grande famille atteinte de maladie de Steinert aux manifestations cliniques vari\u00e9es","volume":"3","author":"Marcoz","year":"1978","journal-title":"J G\u00e9n\u00e9t Hum"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100028614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,19]],"date-time":"2019-05-19T21:08:41Z","timestamp":1558300121000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100028614\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,2]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1989,2]]}},"alternative-id":["S0317167100028614"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100028614","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,2]]}}}