Myotubularin-related protein 2 deficiency

Synonym(s)
- Charcot-Marie-Tooth disease type 4B1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTMR2 / Myotubularin Related Protein 2
  11q21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Myotubularin-related protein 2
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism