3-Hydroxy-3-methylglutaryl-CoA reductase deficiency

Synonym(s)
- Autosomal recessive limb-girdle muscular dystrophy type 28
Type

Disease
External link(s)
- Orphanet
Gene
- HMGCR / 3-hydroxy-3-methylglutaryl-CoA reductase
  5q13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- 3-hydroxy-3-methylglutaryl-CoA reductase
Disease group(s)
- 14.7.1 Disorders of sterol biosynthesis