autosomal recessive limb-girdle muscular dystrophy type 2U

Findings

No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2U yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Slowly progressive · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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 recessive limb-girdle muscular dystrophy
• muscular dystrophy-dystroglycanopathy, type C
• myopathy caused by variation in CRPPA

Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2U

Also called

autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPDISPD autosomal recessive limb-girdle muscular dystrophyLGMD2UMDDGC7