has material basis in germline mutation in RBCK1 polyglucosan body myopathy disorder of glycogen metabolism polyglucosan body myopathy 1 with or without immunodeficiency https://github.com/monarch-initiative/mondo/issues/2668 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/polyglucosan_body_myopathy_1_with_or_without_immunodeficiency GARD:0017643 A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895 MONDO:0014389 polyglucosan body myopathy type 1 polyglucosan body myopathy, early-onset, with or without immunodeficiency NANDO:2200766 UMLS:C4014605 Orphanet:397937 PGBM1 MEDGEN:863042 obsolete neuromuscular disease with dilated cardiomyopathy obsolete neurometabolic disease