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

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

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1002-1013
Number of pages12
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number5
Early online date18 Mar 2020
DOIs
Publication statusPublished - 1 Sept 2020

Keywords

  • RBCK1
  • auto-inflammation
  • cardio
  • glycogen
  • myopathy
  • polyglucosan

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this