{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:05:10Z","timestamp":1791187510454,"version":"4.1.0"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"7","content-domain":{"domain":["neurology.org"],"crossmark-restriction":true},"short-container-title":["Neurology"],"published-print":{"date-parts":[[2009,8,18]]},"DOI":"10.1212\/wnl.0b013e3181b2a4b3","type":"journal-article","created":{"date-parts":[[2009,8,17]],"date-time":"2009-08-17T20:27:27Z","timestamp":1250540847000},"page":"543-551","update-policy":"https:\/\/doi.org\/10.1212\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":60,"title":["Consequences of mutations within the C terminus of the\n            <i>FHL1<\/i>\n            gene"],"prefix":"10.1212","volume":"73","author":[{"given":"B.","family":"Schoser","sequence":"first","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. H.","family":"Goebel","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Janisch","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Quasthoff","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Rother","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bergmann","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Mu\u0308ller-Felber","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Windpassinger","sequence":"additional","affiliation":[{"name":"From the Departments of Friedrich-Baur Institute (B.S.), Department of Neurology, and Dr. von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilians University Munich, Germany; Institute of Neuropathology (H.H.G.), Johannes Gutenberg University of Mainz, Germany; Institute of Human Genetics (I.J., C.W.) and Department of Neurology (S.Q.), Medical University of Graz, Austria; Department of Neurology (J.R.), Johannes Wesling Klinikum, Minden, Germany; and Institute of Neuropathology (M.B.), Klinikum..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/344876a0"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.1110"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1006\/mcbr.2000.0206"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20371"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200804077"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.004"},{"key":"e_1_3_3_8_2","unstructured":"Dubowitz V Sewry CA. Muscle Biopsy: A Practical Approach."},{"key":"e_1_3_3_9_2","unstructured":"Engel AG Franzini-Armstrong C. Myology."},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199704)20:4<411::AID-MUS2>3.0.CO;2-D"},{"key":"e_1_3_3_11_2","first-page":"416","volume":"3","year":"2007","unstructured":"Schr\u00f6der R, Vrabie A, Goebel HH. Primary desminopathies. J Cell Mol Med 2007;3:416\u2013426.","journal-title":"J Cell Mol Med"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2007.00839.x"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390413"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.013"},{"key":"e_1_3_3_15_2","first-page":"904","volume":"118","year":"2008","unstructured":"Schessl J, Zou Y, McGrath MJ, et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest 2008;118:904\u2013912.","journal-title":"J Clin Invest"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.829"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20691"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-17374"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.06.010"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.09.012"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000341311.84347.a0"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.0b013e3181b2a4b3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T12:48:10Z","timestamp":1711630090000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.0b013e3181b2a4b3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8,18]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2009,8,18]]}},"alternative-id":["10.1212\/WNL.0b013e3181b2a4b3"],"URL":"https:\/\/doi.org\/10.1212\/wnl.0b013e3181b2a4b3","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,18]]}}}