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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. © 2020 SSIEM.

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Rahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, David M Lowe, Michael Ashworth, Marco Novelli, Roshni Vara, Aine Merwick, Halima Amer, Reecha Sofat, Max Sugarman, Ana Jovanovic, Mark Roberts, Vasiliki Nakou, Andrew King, Istvan Bodi, Heinz Jungbluth, Anders Oldfors, Elaine Murphy. 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. Journal of inherited metabolic disease. 2020 Sep;43(5):1002-1013

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PMID: 32187699

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