autosomal recessive limb-girdle muscular dystrophy type 2R1
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2R1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of “inside-to-outside” fatty degeneration on muscle imaging has been noted in patients.
Definition from the Mondo Disease Ontology (MONDO:0014977), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Fatty replacement of skeletal muscleHPOHP:0012548
- 4 of 4 reported patients
- Limb-girdle muscular dystrophyHPOHP:0006785
- 4 of 4 reported patients
- Proximal lower limb muscle weaknessHPOHP:0008994
- 4 of 4 reported patients
- Scapular wingingHPOHP:0003691
- 4 of 4 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 1 reported patient
- Reduced FEV1/FVC ratioHPO
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.
- POGLUT1HGNC:22954
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2R1
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1autosomal recessive limb-girdle muscular dystrophy type 2ZLGMD2Zlimb-girdle muscular dystrophy type 2Zmuscular dystrophy, limb-girdle, autosomal recessive 21muscular dystrophy, limb-girdle, type 2ZPOGLUT1 autosomal recessive limb-girdle muscular dystrophy