{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T09:01:13Z","timestamp":1789894873188,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T00:00:00Z","timestamp":1543363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. <jats:italic>SPEG<\/jats:italic> (striated preferentially expressed protein kinase) mutations have recently been identified in 7\u2009CM patients (6 with CNMs). We report 2 additional patients with <jats:italic>SPEG<\/jats:italic> mutations expanding the phenotype and evaluate genotype\u2013phenotype correlations associated with <jats:italic>SPEG<\/jats:italic> mutations.<\/jats:p><jats:p>\n<jats:italic>Methods<\/jats:italic>: Using whole exome\/genome sequencing in CM families, we identified novel recessive <jats:italic>SPEG<\/jats:italic> mutations in 2 patients.<\/jats:p><jats:p>\n<jats:italic>Results<\/jats:italic>: Patient 1, with severe muscle weakness requiring respiratory support, dilated cardiomyopathy, ophthalmoplegia, and findings of nonspecific CM on muscle biopsy carried a homozygous <jats:italic>SPEG<\/jats:italic> mutation (p.Val3062del). Patient 2, with milder muscle weakness, ophthalmoplegia, and CNM carried compound heterozygous mutations (p.Leu728Argfs*82) and (p.Val2997Glyfs*52).<\/jats:p><jats:p>\n<jats:italic>Conclusions<\/jats:italic>: The 2 patients add insight into genotype\u2013phenotype correlations of <jats:italic>SPEG<\/jats:italic>\u2010associated CMs. Clinicians should consider evaluating a CM patient for <jats:italic>SPEG<\/jats:italic> mutations even in the absence of CNM features. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>59<\/jats:bold>:357\u2013362, 2019<\/jats:p>","DOI":"10.1002\/mus.26378","type":"journal-article","created":{"date-parts":[[2018,11,9]],"date-time":"2018-11-09T16:06:37Z","timestamp":1541779597000},"page":"357-362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel <i>SPEG<\/i> mutations in congenital myopathies: Genotype\u2013phenotype correlations"],"prefix":"10.1002","volume":"59","author":[{"given":"Anita E.","family":"Qualls","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research Boston Children's Hospital and Harvard Medical School  300 Longwood Avenue, Boston Massachusetts 02115 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna C.","family":"Herkert","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Centre Groningen Department of Genetics  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alissa M.","family":"D'gama","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research Boston Children's Hospital and Harvard Medical School  300 Longwood Avenue, Boston Massachusetts 02115 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Bharucha\u2010Goebel","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood National Institutes of Health  Bethesda Maryland USA"},{"name":"Division of Neurology Children's National Health System  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Collins","sequence":"additional","affiliation":[{"name":"Mercy Clinic Pediatric Neurology  Springfield Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine R.","family":"Chao","sequence":"additional","affiliation":[{"name":"Center for Mendelian Genomics at the Broad Institute of MIT and Harvard  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Reghan","family":"Foley","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirthe H.","family":"Schoots","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Groningen, University Medical Centre Groningen  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan D.H.","family":"Jongbloed","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Centre Groningen Department of Genetics  Groningen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research Boston Children's Hospital and Harvard Medical School  300 Longwood Avenue, Boston Massachusetts 02115 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-012-0255-x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000171653.17213.2e"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2010.01149.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1657"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a6ca62"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-175"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2086"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1656-8"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.004"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.05.014"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-018-0589-y"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-170265"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.9"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr711"},{"key":"e_1_2_6_16_1","volume-title":"Muscle biopsy: a practical approach","author":"Dubowitz V","year":"2013"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2002.110"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006028200"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.26378","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26378","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.26378","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.26378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T14:33:06Z","timestamp":1694269986000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.26378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,11,28]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1002\/mus.26378"],"URL":"https:\/\/doi.org\/10.1002\/mus.26378","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,11,28]]},"assertion":[{"value":"2018-11-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-11-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}