neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Findings

No curated finding names neuromuscular disease caused by qualitative or quantitative defects of dysferlin 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

• hereditary neurological disease
• qualitative or quantitative protein defects in neuromuscular diseases

Narrower terms (4)

• autosomal recessive limb-girdle muscular dystrophy type 2B
• congenital myopathy, Paradas type
• distal myopathy with anterior tibial onset
• Miyoshi muscular dystrophy 1

Resolves to: neuromuscular disease caused by qualitative or quantitative defects of dysferlin

Also called

dysferlinopathyqualitative or quantitative defects of dysferlin