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.
RBCK1
auto-inflammation
cardio
glycogen
myopathy
polyglucosan
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
15
06
2019
revised:
24
02
2020
accepted:
13
03
2020
pubmed:
19
3
2020
medline:
6
10
2021
entrez:
19
3
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
Glucans
0
Transcription Factors
0
polyglucosan
9012-72-0
RBCK1 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1002-1013Subventions
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
© 2020 SSIEM.
Références
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