{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:42:27Z","timestamp":1790170947210,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T00:00:00Z","timestamp":1556496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA418496"],"award-info":[{"award-number":["MDA418496"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA578400"],"award-info":[{"award-number":["MDA578400"]}],"id":[{"id":"10.13039\/100005202","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":[[2019,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: UDP N\u2010acetylglucosamine2\u2010epimerase\/N\u2010acetylmannosamine\u2010kinase (<jats:italic>GNE<\/jats:italic>) gene mutations can cause mostly autosomal\u2010recessive myopathy with juvenile\u2010onset known as hereditary inclusion\u2010body myopathy (HIBM). <jats:italic>Methods<\/jats:italic>: We describe a family of a patient showing an unusual HIBM with both vacuolar myopathy and myositis without quadriceps\u2010sparing, hindering diagnosis. We show how genetic testing with functional assays, clinical transcriptome sequencing (RNA\u2010seq) in particular, helped facilitate both the diagnosis and a better understanding of the genotype\u2010phenotype relationship. <jats:italic>Results<\/jats:italic>: We identified a novel 7.08 kb pathogenic deletion upstream of <jats:italic>GNE<\/jats:italic> using array comparative genomic hybridization (aCGH) and a common Val727Met variant. Using RNA\u2010seq, we found only monoallelic (Val727Met\u2010allele) expression, leading to ~50% <jats:italic>GNE<\/jats:italic> reduction in muscle. Importantly, \u03b1\u2010dystroglycan is hypoglycosylated in the patient muscle, suggesting HIBM could be a \u201cdystroglycanopathy.\u201d <jats:italic>Conclusions<\/jats:italic>: Our study shows the importance of considering aCGH for GNE\u2010myopathies, and the potential of RNA\u2010seq for faster, definitive molecular diagnosis of unusual myopathies. <jats:italic>Muscle Nerve<\/jats:italic>, 2019<\/jats:p>","DOI":"10.1002\/mus.26486","type":"journal-article","created":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T18:14:33Z","timestamp":1555438473000},"page":"98-103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0236-3281","authenticated-orcid":false,"given":"Samya","family":"Chakravorty","sequence":"first","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Whitehead Building Suite 301, 615 Michael Street NE Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiera","family":"Berger","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics, School of Biology Georgia Institute of Technology  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalia","family":"Arafat","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics, School of Biology Georgia Institute of Technology  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babi Ramesh Reddy","family":"Nallamilli","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Whitehead Building Suite 301, 615 Michael Street NE Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hari Prasanna","family":"Subramanian","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics, School of Biology Georgia Institute of Technology  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumya","family":"Joseph","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology University of Iowa Roy J. and Lucille A. Carver College of Medicine  Iowa City Iowa, 52242 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology University of Iowa Roy J. and Lucille A. Carver College of Medicine  Iowa City Iowa, 52242 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin P.","family":"Campbell","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology University of Iowa Roy J. and Lucille A. Carver College of Medicine  Iowa City Iowa, 52242 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Glass","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pathology Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg","family":"Gibson","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics, School of Biology Georgia Institute of Technology  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhuri","family":"Hegde","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Whitehead Building Suite 301, 615 Michael Street NE Georgia USA"},{"name":"Global Laboratory Services\/Diagnostics Perkin Elmer  Waltham Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aal5209"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12531"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-083115-022545"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2017.276980"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng718"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.07.001"},{"key":"e_1_2_5_9_1","volume-title":"The online metabolic and molecular bases of inherited disease","author":"Huizing M","year":"2014"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0955-0674(92)90041-A"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/2.1.25"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.11.4.9068613"},{"key":"e_1_2_5_13_1","first-page":"80","article-title":"Molecular pathomechanism of distal myopathy with rimmed vacuoles","volume":"24","author":"Nishino I","year":"2005","journal-title":"Acta Myol"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm220"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0193599"},{"key":"e_1_2_5_16_1","first-page":"71","article-title":"Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy","volume":"29","author":"Voermans NC","year":"2010","journal-title":"Clin Neuropathol"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.117609"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20583"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306314"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-307051"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22583"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.300"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.134"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.2146"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.001"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000061520.63546.8F"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000061617.71839.42"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.2350\/06-07-0127.1"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.11.012"}],"container-title":["Muscle &amp; 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