autosomal dominant limb-girdle muscular dystrophy type 1F
Findings
No curated finding names autosomal dominant limb-girdle muscular dystrophy type 1F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
Definition from the Mondo Disease Ontology (MONDO:0012034), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset
HPO, annotations 2026-09-02
Features
20 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.
- Elevated circulating creatine concentrationHPOHP:0034291
- 20 of 20 reported patients
- Pelvic girdle muscle weaknessHPOHP:0003749
- 32 of 32 reported patients
- Shoulder girdle muscle weaknessHPOHP:0003547
- 32 of 32 reported patients
- Distal muscle weaknessHPOHP:0002460
- 24 of 30 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 19 of 32 reported patients
- DysphagiaHPO
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.
- TNPO3HGNC:17103
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: autosomal dominant limb-girdle muscular dystrophy type 1F
- Also called
- LGMD1Fmuscular dystrophy, limb-girdle, autosomal dominant 2