{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T21:22:46Z","timestamp":1792617766224,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,16]],"date-time":"2018-12-16T00:00:00Z","timestamp":1544918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010336","name":"Fundaci\u00f3 Privada Daniel Bravo Andreu","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010336","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mutations in the <jats:italic>EXOSC3<\/jats:italic> gene are responsible for type 1 pontocerebellar hypoplasia, an autosomal recessive congenital disorder characterized by cerebellar atrophy, developmental delay, and anterior horn motor neuron degeneration. Muscle biopsies of these patients often show characteristics resembling classic spinal muscle atrophy, but to date, no distinct features have been identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data and muscle biopsy findings of 3 unrelated patients with <jats:italic>EXOSC3<\/jats:italic> mutations are described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients presented as a severe congenital cognitive and neuromuscular phenotype with short survival, harboring the same point mutation (c.92G&gt;C; p.Gly31Ala). Muscle biopsies consistently showed variable degrees of sarcomeric disorganization with myofibrillar remnants, Z\u2010line thickening, and small nemaline bodies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this uniform genetic cohort of patients with <jats:italic>EXOSC<\/jats:italic>3 mutations, sarcomeric disruption and rod structures were prominent features of muscle biopsies. In the context of neonatal hypotonia, ultrastructural studies might provide early clues for the diagnosis of <jats:italic>EXOSC3<\/jats:italic>\u2010related pontocerebellar hypoplasia. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>59<\/jats:bold>:137\u2013141, 2019<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26305","type":"journal-article","created":{"date-parts":[[2018,7,19]],"date-time":"2018-07-19T18:21:35Z","timestamp":1532024495000},"page":"137-141","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with <i>EXOSC3<\/i>\u2010related type 1 pontocerebellar hypoplasia"],"prefix":"10.1002","volume":"59","author":[{"given":"Miguel M.","family":"Pinto","sequence":"first","affiliation":[{"name":"Neurology Department, Hospital de Egas Moniz Centro Hospitalar de Lisboa Ocidental  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"Monges","sequence":"additional","affiliation":[{"name":"Neuropediatric and Neuropathology Departments National Pediatric Hospital J\u2010P\u2010Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Morphologie Neuromusculaire, Institut de Myologie Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Piti\u00e9\u2010Salp\u00eatri\u00e8re  75013 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana","family":"Lubieniecki","sequence":"additional","affiliation":[{"name":"Neuropediatric and Neuropathology Departments National Pediatric Hospital J\u2010P\u2010Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavi\u00e8re","family":"Lornage","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Neurogenetics, IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire) INSERM U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg  Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Alias","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Sant Pau and CIBERER  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mence","family":"Labasse","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Morphologie Neuromusculaire, Institut de Myologie Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Piti\u00e9\u2010Salp\u00eatri\u00e8re  75013 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e9line","family":"Madelaine","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Morphologie Neuromusculaire, Institut de Myologie Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Piti\u00e9\u2010Salp\u00eatri\u00e8re  75013 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Fardeau","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Morphologie Neuromusculaire, Institut de Myologie Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Piti\u00e9\u2010Salp\u00eatri\u00e8re  75013 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine and Neurogenetics, IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire) INSERM U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg  Illkirch France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo F.","family":"Tizzano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Diseases Division Hospital Vall d'Hebron and CIBERER  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma B.","family":"Romero","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Morphologie Neuromusculaire, Institut de Myologie Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Piti\u00e9\u2010Salp\u00eatri\u00e8re  75013 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31827f0f66"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2254"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-23"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/01677063.2013.814651"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6896-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0371-z"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.060004.116"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600407"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738030180031201"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.08.001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00004-6"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.06.367"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-821243"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198712173172511"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000180362.90078.dc"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.26305","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26305","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.26305","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T13:53:24Z","timestamp":1694699604000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,16]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/mus.26305"],"URL":"https:\/\/doi.org\/10.1002\/mus.26305","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,16]]},"assertion":[{"value":"2018-07-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}