muscular dystrophy, limb-girdle, autosomal recessive 26
MONDO:0030014Mondo
Findings
No curated finding names muscular dystrophy, limb-girdle, autosomal recessive 26 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Calf muscle hypertrophyHPOHP:0008981
- Difficulty runningHPOHP:0009046
- FallsHPOHP:0002527
- Fatty replacement of skeletal muscleHPOHP:0012548
- Highly elevated creatine kinaseHPOHP:0030234
- Increased variability in muscle fiber diameterHPOHP:0003557
- Muscle fiber necrosisHPOHP:0003713
- Proximal lower limb muscle weaknessHPOHP:0008994
- Young adult onset
- 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.
- POPDC3HGNC:17649
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: muscular dystrophy, limb-girdle, autosomal recessive 26
- Also called
- LGMDR26