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We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto\u2010inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings.<\/jats:p>","DOI":"10.1002\/jimd.12234","type":"journal-article","created":{"date-parts":[[2020,3,18]],"date-time":"2020-03-18T21:46:49Z","timestamp":1584568009000},"page":"1002-1013","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["<scp><i>RBCK1<\/i><\/scp>\u2010related disease: A rare multisystem disorder with polyglucosan storage, auto\u2010inflammation, recurrent infections, skeletal, and cardiac myopathy\u2014Four additional patients and a review of the current literature"],"prefix":"10.1002","volume":"43","author":[{"given":"Rahul","family":"Phadke","sequence":"first","affiliation":[{"name":"Dubowitz Neuromuscular Centre UCL Institute of Child Health, Great Ormond 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