autosomal recessive limb-girdle muscular dystrophy type 2X
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2X 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 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
Definition from the Mondo Disease Ontology (MONDO:0014782), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Early young adult 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.
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 1 reported patient
- Second degree atrioventricular blockHPOHP:0011706
- 3 of 3 reported patients
- SyncopeHPOHP:0001279
- 3 of 3 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 3 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 3 reported patients
- Limb muscle weaknessHPO
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.
- HGNC:1152HGNC:1152
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2X
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVESautosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndromeBVES autosomal recessive limb-girdle muscular dystrophyLGMD2Xmuscular dystrophy, limb-girdle, autosomal recessive 25muscular dystrophy, limb-girdle, type 2X