myopathy caused by variation in GMPPB

Findings

No curated finding names myopathy caused by variation in GMPPB 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 2T
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
• muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Resolves to: myopathy caused by variation in GMPPB

Also called

GMPPB-related myopathymyopathy caused by mutation in GMPPB