autosomal recessive limb-girdle muscular dystrophy type 2F
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
Definition from the Mondo Disease Ontology (MONDO:0011028), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Difficulty climbing stairsHPOHP:0003551
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Proximal amyotrophyHPOHP:0007126
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Scapular wingingHPOHP:0003691
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.
- SGCDHGNC:10807
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2F
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCDLGMD2Flimb-girdle muscular dystrophy due to delta-sarcoglycan deficiencymuscular dystrophy, limb-girdle, autosomal recessive 6SGCD autosomal recessive limb-girdle muscular dystrophy