myopathy caused by variation in POMT1

Findings

No curated finding names myopathy caused by variation in POMT1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary skeletal muscle disorder
• myopathy
• qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Narrower terms (3)

• 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

Resolves to: myopathy caused by variation in POMT1

Also called

myopathy caused by mutation in POMT1POMT1 myopathyPOMT1-related myopathy