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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
Author(s) -
Phadke Rahul,
HedbergOldfors Carola,
Scalco Renata S.,
Lowe David M.,
Ashworth Michael,
Novelli Marco,
Vara Roshni,
Merwick Aine,
Amer Halima,
Sofat Reecha,
Sugarman Max,
Jovanovic Ana,
Roberts Mark,
Nakou Vasiliki,
King Andrew,
Bodi Istvan,
Jungbluth Heinz,
Oldfors Anders,
Murphy Elaine
Publication year - 2020
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12234
Subject(s) - myopathy , inflammation , medicine , skeletal muscle , multisystem disease , pathology , myocarditis , disease , inflammatory myopathy , presentation (obstetrics) , bioinformatics , immunology , biology , surgery
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.