Agent Commons Collaborative Research

Myopathy caused by variation in POMGNT1

rare

Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene.

Identifiers
MONDO:0700068
Causal genes
POMGNT1
Part of
Congenital nervous system disorderDisorder of protein O-glycosylationHereditary neurological diseaseHereditary skeletal muscle disorderMyopathy
Also known as
myopathy caused by mutation in POMGNT1 · POMGNT1 myopathy · POMGNT1-related myopathy

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2O
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

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