{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T01:47:58Z","timestamp":1780451278881,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,31]],"date-time":"2015-03-31T00:00:00Z","timestamp":1427760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Muscular Dystrophy Association of Greece (MDA Hellas)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expansion in intron 1 of the <jats:italic>CNBP<\/jats:italic> gene. <jats:italic>Methods<\/jats:italic>: We studied the first 16 Greek DM2 patients who had undergone thorough evaluation. <jats:italic>Results<\/jats:italic>: The age at diagnosis ranged from 38 to 69 years. The initial symptoms were proximal weakness, myalgias, and myotonia. Clinical myotonia was elicited in 10 patients, whereas electromyographic myotonic discharges were observed in almost all patients. Subcapsular cataract was frequently present, but cardiac arrhythmias were rare. <jats:italic>Conclusions<\/jats:italic>: In this study of Greek DM2 patients, proximal weakness was the most common initial symptom. Myalgias were also reported in a few patients, yet myotonia was not a major complaint. Although DM2 is considered relatively benign, there are patients who may be affected severely. Thus, a high index of suspicion must be maintained to make a timely diagnosis, especially in those of reproductive age. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>51<\/jats:bold>:686\u2013691, 2015<\/jats:p>","DOI":"10.1002\/mus.24440","type":"journal-article","created":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T09:32:53Z","timestamp":1409736773000},"page":"686-691","source":"Crossref","is-referenced-by-count":10,"title":["Phenotypic variability and molecular genetics in proximal myotonic myopathy"],"prefix":"10.1002","volume":"51","author":[{"given":"George Konstantinos","family":"Papadimas","sequence":"first","affiliation":[{"name":"First Department of Neurology University of Athens, Medical School Aeginition Hospital, 74, Vas. Sophias Avenue 11528 Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiriaki","family":"Kekou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens, Medical School of Athens  Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos","family":"Papadopoulos","sequence":"additional","affiliation":[{"name":"First Department of Neurology University of Athens, Medical School Aeginition Hospital, 74, Vas. Sophias Avenue 11528 Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Kararizou","sequence":"additional","affiliation":[{"name":"First Department of Neurology University of Athens, Medical School Aeginition Hospital, 74, Vas. Sophias Avenue 11528 Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Kanavakis","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Athens, Medical School of Athens  Greece"},{"name":"University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children's Hospital Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiota","family":"Manta","sequence":"additional","affiliation":[{"name":"First Department of Neurology University of Athens, Medical School Aeginition Hospital, 74, Vas. 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