{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:43:06Z","timestamp":1790026986353,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T00:00:00Z","timestamp":1480464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mutations in the <jats:italic>COL12A1<\/jats:italic> (collagen, type XII, alpha 1) gene have been described in a milder Bethlem\u2010like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss\u2010of\u2010function).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe an 8\u2010year\u2010old girl of Polish origin who presented with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel, potentially pathogenic heterozygous missense <jats:italic>COL12A1<\/jats:italic> c.8329G&gt;C (p.Gly2777Arg) variant using a targeted sequencing panel. Patient fibroblast studies confirmed intracellular retention of the COL12A1 protein, consistent with a dominant\u2010negative mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>As our patient showed a more intermediate phenotype, this case expands the phenotypic spectrum for <jats:italic>COL12A1<\/jats:italic> disorders. So far, <jats:italic>COL12A1<\/jats:italic> disorders seem to cover much of the severity range of an Ehlers\u2010Danlos\/Bethlem\u2010like myopathy overlap syndrome associated with both connective tissue abnormalities and muscle weakness. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>55<\/jats:bold>: 277\u2013281, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25232","type":"journal-article","created":{"date-parts":[[2016,6,27]],"date-time":"2016-06-27T17:22:44Z","timestamp":1467048164000},"page":"277-281","source":"Crossref","is-referenced-by-count":38,"title":["Novel <i>Col12A1<\/i> variant expands the clinical picture of congenital myopathies with extracellular matrix defects"],"prefix":"10.1002","volume":"55","author":[{"given":"Jaya","family":"Punetha","sequence":"first","affiliation":[{"name":"Research Center for Genetic Medicine, Children's National Medical Center Washington DC USA"},{"name":"Department of Integrative Systems Biology The George Washington University School of Medicine and Health Sciences Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akanchha","family":"Kesari","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Medicine, Children's National Medical Center Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Research Center for Genetic Medicine, Children's National Medical Center Washington DC USA"},{"name":"Department of Integrative Systems Biology The George Washington University School of Medicine and Health Sciences Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Gos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kami\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostera\u2010Pruszczyk","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University of Warsaw Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Hausmanowa\u2010Petrusewicz","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Hu","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke\/NIH, Porter Neuroscience Research Center Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqun","family":"Zou","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke\/NIH, Porter Neuroscience Research Center Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"National Institute of Neurological Disorders and Stroke\/NIH, Porter Neuroscience Research Center Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"J\u0228drzejowska","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences Warsaw Poland"},{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a004978"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2014.04.020"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt637"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt627"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_10_1","unstructured":"Exome Variant Server. 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