<scp><i>RBCK1</i></scp>‐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
Rahul Phadke, Carola Hedberg‐Oldfors, R. Scalco, David M. Lowe, Michael T. Ashworth, Marco Novelli, Roshni Vara, Áine Merwick, Halima Amer, Reecha Sofat, Max Sugarman, Ana Jovanović, Mark Roberts, Vasiliki Nakou, Andrew King, István Bódi, Heinz Jungbluth, Anders Oldfors, Elaine Murphy
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.
Topics & Concepts
MyopathySkeletal muscleInflammationMedicineMultisystem diseasePathologyDiseaseMyocarditisInflammatory myopathyPresentation (obstetrics)BioinformaticsImmunologyInternal medicineBiologySurgeryGlycogen Storage Diseases and MyoclonusConnective tissue disorders researchNeurogenetic and Muscular Disorders Research