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The electron\u2010microscopic evaluation of his muscle biopsy showed anomalies of the sarcoplasmic reticulum and mitochondria; the organization of the myofibrils was normal. The morphological findings suggested primary or secondary involvement of neuromuscular signal transduction and involvement of mitochondria in the development of the myopathy in this child. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30736","type":"journal-article","created":{"date-parts":[[2005,5,10]],"date-time":"2005-05-10T18:20:29Z","timestamp":1115749229000},"page":"320-323","source":"Crossref","is-referenced-by-count":5,"title":["Tel Hashomer camptodactyly syndrome: 12\u2010year follow\u2010up of a Hungarian patient and review"],"prefix":"10.1002","volume":"135A","author":[{"given":"B\u00e9la","family":"Melegh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Holl\u00f3dy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1ria","family":"Aszmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1roly","family":"M\u00e9hes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,10]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"17","article-title":"The Hungarian National Growth Study I","volume":"21","author":"Eiben OG","year":"1991","journal-title":"Humanbiologia Budapestiensis"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460320"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170203"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.203"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.2.136"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_5_8_1","volume-title":"Handbook of normal physical measurements","author":"Hall JG","year":"1989"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<28::AID-AJMG7>3.0.CO;2-H"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1319"},{"key":"e_1_2_5_11_1","volume-title":"London Neurogenetics Database and Dysmorphology Photo Library on CD\u2010Rom (Version 3)","author":"London Dysmorphology Database","year":"2001"},{"key":"e_1_2_5_12_1","unstructured":"M\u00e9hesK.1988.Informative morphogenetic variants in the newborn infant. 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