autosomal recessive limb-girdle muscular dystrophy type 2G
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2G 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 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
Definition from the Mondo Disease Ontology (MONDO:0011170), read 2026-09-29. CC BY 4.0.
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.
- TCAPHGNC:11610
- Strong · Ambry Genetics · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2G
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAPLGMD2Glimb-girdle muscular dystrophy due to telethonin deficiencymuscular dystrophy, limb-girdle, autosomal recessive 7muscular dystrophy, limb-girdle, type 2GTCAP autosomal recessive limb-girdle muscular dystrophy