muscular dystrophy, limb-girdle, autosomal dominant

Findings

No curated finding names muscular dystrophy, limb-girdle, autosomal dominant 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

• autosomal dominant disease
• hereditary neuromuscular disease
• hereditary skeletal muscle disorder
• limb-girdle muscular dystrophy

Narrower terms (8)

• autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
• autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
• autosomal dominant limb-girdle muscular dystrophy type 1F
• autosomal dominant limb-girdle muscular dystrophy type 1G
• autosomal dominant limb-girdle muscular dystrophy type 1H
• Emery-Dreifuss muscular dystrophy 2, autosomal dominant
• muscular dystrophy, limb-girdle, autosomal dominant 4
• myofibrillar myopathy 3

Resolves to: muscular dystrophy, limb-girdle, autosomal dominant

Also called

autosomal dominant limb-girdle muscular dystrophylimb-girdle muscular dystrophy, autosomal dominant