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Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35232","type":"journal-article","created":{"date-parts":[[2012,3,9]],"date-time":"2012-03-09T21:26:05Z","timestamp":1331328365000},"page":"850-855","source":"Crossref","is-referenced-by-count":33,"title":["Myopathy in a 20\u2010year\u2010old female patient with D4ST\u20101 deficient Ehlers\u2010Danlos syndrome due to a homozygous <i>CHST14<\/i> mutation"],"prefix":"10.1002","volume":"158A","author":[{"given":"N.C.","family":"Voermans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kempers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Lammens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"van Alfen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.C.","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.G.","family":"van Engelen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.C.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21458"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880040304"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/03790799109166684"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.520"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02417.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.010"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1302\/0301-620X.74B6.1447255","article-title":"Ehlers\u2010Danlos syndrome with soft\u2010tissue contractures","volume":"74","author":"Hamada S","year":"1992","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbiomech.2008.09.027"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00723.2009"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21440"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30443"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30965"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33498"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21355"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21300"},{"key":"e_1_2_5_17_1","volume-title":"Muscles testing and function with posture and pain","author":"Peterson\u2010Kendall F","year":"2005"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21015"},{"key":"e_1_2_5_19_1","first-page":"254","article-title":"Cerebral vascular accidents in patients over the age of 60. 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