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Myopathy caused by variation in POMGNT2

MONDO:0700069

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

Also known as: POMGNT2 myopathy, POMGNT2-related myopathy, myopathy caused by mutation in POMGNT2

2 clinical trials for this condition and its sub-types, 0 tagged with Myopathy caused by variation in POMGNT2 itself.

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Where it sits in the disease tree

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Part of

↑ Myopathy (990) ↑ Hereditary skeletal muscle disorder (406) ↑ Disorder of protein O-glycosylation (13)

Sub-types of Myopathy caused by variation in POMGNT2

Congenital muscular dystrophy caused by variation in POMGNT2 0 trials
2 sub-types
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 trials
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 0 trials

Including sub-types (2) Tagged with Myopathy caused by variation in POMGNT2 (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.