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We report the first pathologic evidence of dystroglycanopathy in siblings with <jats:italic>UGDH<\/jats:italic> variants. Both presented around 6\u2009months with developmental delay and elevated creatinine kinase. Sibling A developed epilepsy at age 9\u2009years. Muscle biopsy from sibling A showed necrotizing myopathy with reduced matriglycan immunostaining. Western blot revealed \u03b1\u2010dystroglycan with abnormally low molecular weight. The siblings shared pathogenic <jats:italic>UGDH<\/jats:italic> variants in trans: c.305G&gt;A p.(R102Q) is predicted to disrupt protein structure and function; c.265\u20106C&gt;G is deleterious to splicing. We propose that <jats:italic>UGDH<\/jats:italic> is an additional dystroglycanopathy gene.<\/jats:p>","DOI":"10.1002\/acn3.70002","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T17:25:41Z","timestamp":1744910741000},"page":"1302-1308","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>UDP\u2010glucose dehydrogenase<\/i> variants cause dystroglycanopathy"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-6182-111X","authenticated-orcid":false,"given":"Anna M.","family":"Reelfs","sequence":"first","affiliation":[{"name":"University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie M.","family":"Stephan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa M.","family":"Czech","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"},{"name":"Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary O.","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumya","family":"Joseph","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics, Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin W.","family":"Darbro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin P.","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"},{"name":"Howard Hughes Medical Institute, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics, Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine D.","family":"Mathews","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Carver College of Medicine  Iowa City Iowa USA"},{"name":"Department of Neurology University of Iowa Carver College of Medicine  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R200031200"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02814"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwv021"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222313162"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1233675"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M804394200"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.751917"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cws152"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.03941"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1369\/0022155420947500"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1294214"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00071"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-14360-7"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2269"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2022.12.007"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000235854.77716.6c"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2252"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu733"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-020-00803-9"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr407"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22225"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1206"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.516"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13064-021-00153-1"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.87965.3"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2301-11.2011"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00837"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00838"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003609"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr357"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.8b00497"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi2005637"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.39.25117"},{"key":"e_1_2_9_40_1","volume-title":"Proteomics. 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