myopathy caused by variation in FKRP

Findings

No curated finding names myopathy caused by variation in FKRP 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

• disorder of protein O-glycosylation
• hereditary skeletal muscle disorder
• myopathy

Narrower terms (3)

• autosomal recessive limb-girdle muscular dystrophy type 2I
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
• muscular dystrophy-dystroglycanopathy type B5

Resolves to: myopathy caused by variation in FKRP

Also called

FKRP myopathyFKRP-related myopathymyopathy caused by mutation in FKRP