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We report on an infant with tongue fasciculations and a rare mutation of the <jats:italic><jats:styled-content style=\"fixed-case\">SMN<\/jats:styled-content>1<\/jats:italic> gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of <jats:styled-content style=\"fixed-case\">SMA<\/jats:styled-content>.<\/jats:p>","DOI":"10.1002\/ccr3.359","type":"journal-article","created":{"date-parts":[[2015,9,2]],"date-time":"2015-09-02T21:57:09Z","timestamp":1441231029000},"page":"832-834","source":"Crossref","is-referenced-by-count":2,"title":["Tongue fasciculations in an infant with spinal muscular atrophy type 1"],"prefix":"10.1002","volume":"3","author":[{"given":"Eleni Z.","family":"Giannopoulou","sequence":"first","affiliation":[{"name":"Department of General Pediatrics and Neonatology University Children\u2032s Hospital of Saarland Kirrberger Street 66421 Homburg (Saar) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Martin","sequence":"additional","affiliation":[{"name":"Practice of Human Genetics 14 Kardinal\u2010Wendel Street 66424 Homburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Institute for Genetics and Center for Molecular Medicine Cologne University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umut","family":"Yilmaz","sequence":"additional","affiliation":[{"name":"Neurosciences\/Neuroradiology University Hospital of Saarland Kirrberger Street 66421 Homburg (Saar) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludwig","family":"Gortner","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics and Neonatology University Children\u2032s Hospital of Saarland Kirrberger Street 66421 Homburg (Saar) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sascha","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics and Neonatology University Children\u2032s Hospital of Saarland Kirrberger Street 66421 Homburg (Saar) Germany"},{"name":"Section\u00a0Neuropediatrics University Children\u2032s Hospital of Saarland Kirrberger Street 66421 Homburg (Saar) Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60921-6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.05.030"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80456-0"},{"issue":"4","key":"e_1_2_6_6_1","first-page":"S282","article-title":"Blake's pouch cyst and Werdnig\u2010Hoffmann disease: report of a new association and review of the literature","volume":"5","author":"Shohoud S. 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