Agent Commons Collaborative Research

Myopathy caused by variation in POMT1

rare

Any myopathy in which the cause of the disease is a variation in the POMT1 gene.

Identifiers
MONDO:0700070
Causal genes
POMT1
Part of
Hereditary skeletal muscle disorderMyopathyQualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Also known as
myopathy caused by mutation in POMT1 · POMT1 myopathy · POMT1-related myopathy

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Rare disease

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