{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T03:28:49Z","timestamp":1747193329559,"version":"3.40.5"},"reference-count":12,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in &lt;i&gt;CNBP&lt;\/i&gt; on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and\/or symptoms of neuropathy have been only rarely reported. Here, we describe 2 related DM2 patients both of whom displayed an atypical disease onset characterized by dysautonomic symptoms, possibly secondary to peripheral neuropathy.<\/jats:p>","DOI":"10.1159\/000487508","type":"journal-article","created":{"date-parts":[[2018,3,13]],"date-time":"2018-03-13T22:02:56Z","timestamp":1520978576000},"page":"166-170","source":"Crossref","is-referenced-by-count":1,"title":["Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2"],"prefix":"10.1159","volume":"79","author":[{"given":"Salvatore","family":"Rossi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Romano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Modoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Perna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Santoro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Monforte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Pieroni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Luigetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria\u00a0Grazia","family":"Pomponi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1950-1468","authenticated-orcid":false,"given":"Gabriella","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,3,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062125"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70204-1"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6993-0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2011.00313.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1179\/1743132812Y.0000000144"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.pjnns.2015.04.008"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12635"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6779-9"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21615"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2009.04.012"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00277-8"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2010.10.132"}],"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/487508","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/487508","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:43:48Z","timestamp":1745426628000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000487508"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":12,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2018,5,24]]},"published-print":{"date-parts":[[2018,5,29]]}},"URL":"https:\/\/doi.org\/10.1159\/000487508","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"type":"print","value":"0014-3022"},{"type":"electronic","value":"1421-9913"}],"subject":[],"published":{"date-parts":[[2018]]}}}