neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan

Findings

No curated finding names neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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

• qualitative or quantitative protein defects in neuromuscular diseases

Narrower terms (1)

• qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

Resolves to: neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan

Also called

alpha-dystroglycanopathydystroglycanopathyqualitative or quantitative defects of alpha-dystroglycan