{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:04:00Z","timestamp":1777802640833,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"11","license":[{"start":{"date-parts":[[2007,11,1]],"date-time":"2007-11-01T00:00:00Z","timestamp":1193875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:p>We report a male term newborn with genetically confirmed spinal muscular atrophy type 0, presenting with arthrogryposis and severe generalized weakness and requiring ventilatory support. Muscle biopsy revealed fibers with central nuclei resembling myotubes and negative myotubularin immunohistochemical staining compared with a control muscle biopsy. The absence of myotubularin associated with survival motor neuron protein deficiency suggests that survival motor neuron protein may have a role in muscle fiber maturation and myotubularin expression. Studying the pathology of this rare and lethal neonatal form of spinal muscular atrophy may further our understanding of spinal muscular atrophy pathogenesis.<\/jats:p>","DOI":"10.1177\/0883073807307105","type":"journal-article","created":{"date-parts":[[2007,11,15]],"date-time":"2007-11-15T19:25:17Z","timestamp":1195154717000},"page":"1301-1304","source":"Crossref","is-referenced-by-count":23,"title":["A Newborn With Spinal Muscular Atrophy Type 0 Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy"],"prefix":"10.1177","volume":"22","author":[{"given":"Amelie","family":"Nadeau","sequence":"first","affiliation":[{"name":"Service de Neurologie, H\u00f4pital Ste-Justine, 3175, C\u00f4te Ste-Catherine, Montr\u00e9al (Qu\u00e9bec), H3T 1C5, Canada,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"D'Anjou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurology Division Hopital Ste-Justine, Universite de Montreal, Montreal, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Debray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Genetics Division Hopital Ste-Justine, Universite de Montreal, Montreal, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Robitaille","sequence":"additional","affiliation":[{"name":"Department of Neuropathology H\u00f4pital Ste-Justine, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise R.","family":"Simard","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics University of Manitoba, Winnipeg, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Vanasse","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurology Division Hopital Ste-Justine, Universite de Montreal, Montreal, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,11,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2004.03.022"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200304128"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80012-9"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80015-4"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000171653.17213.2e"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.212498399"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100030304"},{"key":"atypb10","unstructured":"Fidzianska-Dolot A., Hausmanowa-Petrusewicz I. 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