Myotubularin 1 deficiency

Synonym(s)
- X-linked myotubular myopathy
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTM1 / Myotubularin 1
  Xq28
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Myotubularin
Disease group(s)
- 14.5.2 Disorders of phosphatidylinositol metabolism