Myopathy caused by variation in POMGNT2

rare

Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.

Identifiers: MONDO:0700069
Causal genes: POMGNT2
Part of: Disorder of protein O-glycosylation Hereditary skeletal muscle disorder Myopathy
Also known as: myopathy caused by mutation in POMGNT2 · POMGNT2 myopathy · POMGNT2-related myopathy

Subtypes

Disease Rare Not rare Subtypes

Including projects on subtypes.

No projects yet.