Associated Papers
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Zhu B et al.
Human Molecular Genetics, 2026
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
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.
Phadke R et al.
Journal of Inherited Metabolic Disease, 2020
The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.
Hrdinka M et al.
Molecular Cell, 2017
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J et al.
Annals of Neurology, 2013
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