Associated Papers
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1
A novel variant of RBCK1 gene causes mild polyglucosan myopathy.
AlAnzi T et al.
Neurosciences (riyadh, Saudi Arabia), 2022
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
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M et al.
European Journal of Neurology, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
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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