HOIL1 deficiency

Synonym(s)
- Polyglucosan body myopathy type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- RBCK1 / RBCK1
  20p13
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- RBCK1 protein
Pathway
- Glycogen metabolism
Disease group(s)
- 3.4.4 Polyglucosan storage disorders