Manuel Pühringer, Astrid Eisenkölbl, Gudrun Gröppel,
"Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1"
, in Molecular Genetics and Metabolism Reports, Vol. 38, 2023
Original Titel:
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1