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Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG \u2022 CCG repeat expansion in four different genes were identified in OPDM individuals in Asian populations. None of these have been found in affected individuals of non-Asian ancestry. In this study we describe the identification of CCG expansions in\n                    <jats:italic>ABCD3<\/jats:italic>\n                    , ranging from 118 to 694 repeats, in 35 affected individuals across eight unrelated OPDM families of European ancestry.\n                    <jats:italic>ABCD3<\/jats:italic>\n                    transcript appears upregulated in fibroblasts and skeletal muscle from OPDM individuals, suggesting a potential role of over-expression of CCG repeat containing\n                    <jats:italic>ABCD3<\/jats:italic>\n                    transcript in progressive skeletal muscle degeneration. The study provides further evidence of the role of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association between the CGG \u2022 CCG repeat motif and a specific pattern of muscle weakness.\n                  <\/jats:p>","DOI":"10.1038\/s41467-024-49950-2","type":"journal-article","created":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T06:02:10Z","timestamp":1722060130000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2208-5311","authenticated-orcid":false,"given":"Andrea","family":"Cortese","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3935-2279","authenticated-orcid":false,"given":"Sarah 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