RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature. Issue 5 (16th April 2020)

• Record Type: Journal Article
• Authors: Phadke, Rahul; Hedberg‐Oldfors, Carola; Scalco, Renata S.; Lowe, David M.; Ashworth, Michael; Novelli, Marco; Vara, Roshni; Merwick, Aine; Amer, Halima; Sofat, Reecha; Sugarman, Max; Jovanovic, Ana; Roberts, Mark; Nakou, Vasiliki; King, Andrew; Bodi, Istvan; Jungbluth, Heinz; Oldfors, Anders; Murphy, Elaine
• Is Part Of: Journal of inherited metabolic disease. Volume 43:Issue 5(2020)
• Page Start: 1002
• Page End: 1013
• Publication Date: 2020-04-16
• Subjects: cardio -- myopathy -- auto‐inflammation -- glycogen -- myopathy -- polyglucosan -- RBCK1; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jimd.12234
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto‐inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings.