RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature.

In this paper we report four new patients, from 3 kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterized 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. This article is protected by copyright. All rights reserved.