{"doi":"10.1002/acn3.70002","title":"<i>UDP‐glucose dehydrogenase</i> variants cause dystroglycanopathy","abstract":"UDP-glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase. Sibling A developed epilepsy at age 9 years. Muscle biopsy from sibling A showed necrotizing myopathy with reduced matriglycan immunostaining. Western blot revealed α-dystroglycan with abnormally low molecular weight. The siblings shared pathogenic UGDH variants in trans: c.305G>A p.(R102Q) is predicted to disrupt protein structure and function; c.265-6C>G is deleterious to splicing. We propose that UGDH is an additional dystroglycanopathy gene.","journal":"Annals of Clinical and Translational Neurology","year":2025,"id":531344,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9507,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":484379,"name":"Carrie Stephan","orcid":"0000-0001-5782-4957","position":1,"is_corresponding":false},{"id":1411565,"name":"Theresa Czech","orcid":"0000-0003-4431-2017","position":2,"is_corresponding":false},{"id":1412064,"name":"Mary O. Cox","orcid":null,"position":3,"is_corresponding":false},{"id":985376,"name":"Soumya Joseph","orcid":"0000-0002-0487-1378","position":4,"is_corresponding":false},{"id":285421,"name":"Benjamin W. Darbro","orcid":"0000-0001-9279-356X","position":5,"is_corresponding":false},{"id":600772,"name":"Steven A. Moore","orcid":"0000-0002-6353-7900","position":6,"is_corresponding":false},{"id":365964,"name":"Kevin P. Campbell","orcid":"0000-0003-2066-5889","position":7,"is_corresponding":false},{"id":435495,"name":"Katherine D. Mathews","orcid":"0000-0003-4160-0435","position":8,"is_corresponding":false},{"id":822104,"name":"Anna Reelfs","orcid":null,"position":0,"is_corresponding":true}],"reference_count":39,"raw_metadata":null,"created_at":"2026-07-19T02:51:14.579161Z","pmid":"40245099","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}