Associated Papers
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Zhu B et al.
Human Molecular Genetics, 2026
Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.
Babaee M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
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
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