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
A novel variant of RBCK1 gene causes mild polyglucosan myopathy.
AlAnzi T et al.
Neurosciences (riyadh, Saudi Arabia), 2022
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M et al.
Journal of Neurology, 2018
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J et al.
Annals of Neurology, 2013
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