Choline kinase beta deficiency

Synonym(s)
- Congenital muscular dystrophy, megaconial type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CHKB / Choline Kinase Beta
  22q13.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Choline Kinase Beta
Disease group(s)
- 14.5.1 Disorders of phosphatidylcholine, phosphatidylserine and phosphatidylethanolamine metabolism
Child entries
- CHKB-related proximal myopathy with focal depletion of mitochondria