Associated Papers
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
Select a paper to view details