autosomal dominant limb-girdle muscular dystrophy type 1G
Findings
No curated finding names autosomal dominant limb-girdle muscular dystrophy type 1G yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
Definition from the Mondo Disease Ontology (MONDO:0012193), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
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.
- HNRNPDLHGNC:5037
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: autosomal dominant limb-girdle muscular dystrophy type 1G
- Also called
- autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDLHNRNPDL autosomal dominant limb-girdle muscular dystrophyLGMD1Gmuscular dystrophy, limb-girdle, autosomal dominant 3