RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four …
R Phadke, C Hedberg‐Oldfors… - Journal of Inherited …, 2020 - Wiley Online Library
R Phadke, C Hedberg‐Oldfors, RS Scalco, DM Lowe, M Ashworth, M Novelli, R Vara…
Journal of Inherited Metabolic Disease, 2020•Wiley Online LibraryIn 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.
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.
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.
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