Nonaka myopathy

Synonym(s)
- GNE myopathy,
- UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GNE / GNE bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
  9p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
Disease group(s)
- 18.4.4 Disorders of sialic acid metabolism
Child entries
- Severe autosomal recessive macrothrombocytopenia
- Sialuria