{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:32:56Z","timestamp":1791973976183,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T00:00:00Z","timestamp":1590105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"BioBlast Pharma"},{"name":"Fonds de la recherche du Qu\u00e9bec en Sant\u00e9","award":["31011 (to C.G.)"],"award-info":[{"award-number":["31011 (to C.G.)"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>In this study we aimed to document the prevalence and age of onset of motor impairments and other key symptoms in oculopharyngeal muscular dystrophy (OPMD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective chart review of patients followed at the Saguenay Neuromuscular Clinic (Quebec, Canada).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 333 participants with the (GCN)\n                      <jats:sub>13<\/jats:sub>\n                      mutation were included. Before the age of 75\u2009years, 27% of them had walking limitations, 14% could not climb stairs independently, and 14% used a wheelchair for long distances or daily living. The median age of onset was 54\u2009years for ptosis and dysphagia and 58\u2009years for lower limb proximal weakness. Other frequent symptoms included fatigue, pharyngeal pooling of thickened secretions, and dysphonia. The median age at death was 77\u2009years and the main cause was respiratory disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This study provides important information to help anticipatory guidance for affected people and for the development of therapeutic trials in OPMD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.26888","type":"journal-article","created":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T02:24:13Z","timestamp":1586399053000},"page":"201-207","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["A study of impairments in oculopharyngeal muscular dystrophy"],"prefix":"10.1002","volume":"62","author":[{"given":"Jean\u2010Denis","family":"Brisson","sequence":"first","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine et des sciences de la sant\u00e9 Universit\u00e9 de Sherbrooke  Sherbrooke, Qu\u00e9bec, Canada"},{"name":"Groupe de recherche interdisciplinaire sur les maladies neuromusculaires Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2010Lac\u2010St\u2010Jean  Saguenay, Qu\u00e9bec Canada"},{"name":"Clinique des maladies neuromusculaires Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2010Lac\u2010St\u2010Jean  Saguenay, Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Gagnon","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine et des sciences de la sant\u00e9 Universit\u00e9 de Sherbrooke  Sherbrooke, Qu\u00e9bec, Canada"},{"name":"Groupe de recherche interdisciplinaire sur les maladies neuromusculaires Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2010Lac\u2010St\u2010Jean  Saguenay, Qu\u00e9bec Canada"},{"name":"Centre de recherche Charles\u2010Le Moyne\u2013Saguenay\u2010Lac\u2010St\u2010Jean sur les innovations en sant\u00e9 Universit\u00e9 de Sherbrooke  Sherbrooke, Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[{"name":"Department of Neurology McGill University, Montreal Neurological Institute  Montr\u00e9al, Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"C\u00f4t\u00e9","sequence":"additional","affiliation":[{"name":"Groupe de recherche interdisciplinaire sur les maladies neuromusculaires Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2010Lac\u2010St\u2010Jean  Saguenay, Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Mathieu","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de m\u00e9decine et des sciences de la sant\u00e9 Universit\u00e9 de Sherbrooke  Sherbrooke, Qu\u00e9bec, Canada"},{"name":"Groupe de recherche interdisciplinaire sur les maladies neuromusculaires Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2010Lac\u2010St\u2010Jean  Saguenay, Qu\u00e9bec Canada"},{"name":"Clinique des maladies neuromusculaires Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2010Lac\u2010St\u2010Jean  Saguenay, Qu\u00e9bec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000072861"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003554"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20726"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00497.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(97)00077-1"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90119-5"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6374-5"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24932"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2010.03012.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-164"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.09.010"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0201-6"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.12.009"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.09.003"},{"key":"e_1_2_9_16_1","volume":"15","author":"Shields M","year":"2004","journal-title":"Rapports sur la sant\u00e9"},{"key":"e_1_2_9_17_1","unstructured":"Statistics Canada. 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