muscular dystrophy, limb-girdle, autosomal dominant 4
MONDO:0029133Mondo
Findings
No curated finding names muscular dystrophy, limb-girdle, autosomal dominant 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 features
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.
- Back painHPOHP:0003418
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- Elevated circulating creatine kinase activityHPOHP:0003236
- Fatty replacement of skeletal muscleHPOHP:0012548
- Increased variability in muscle fiber diameterHPOHP:0003557
- MyalgiaHPOHP:0003326
- MyopathyHPOHP:0003198
- Proximal muscle weaknessHPOHP:0003701
Genes
1 gene
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.
- CAPN3HGNC:1480
- Definitive · Natera · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
7 names
Resolves to: muscular dystrophy, limb-girdle, autosomal dominant 4
- Also called
- calpain-3-related LGMD D4calpain-3-related limb-girdle muscular dystrophy D4LGMD type D4LGMD1ILGMDD4limb-girdle muscular dystrophy type D4muscular dystrophy, limb-girdle, type 1I