autosomal recessive limb-girdle muscular dystrophy type 2N
Findings
No curated finding names autosomal recessive limb-girdle muscular dystrophy type 2N 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 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0013162), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Complete right bundle branch blockHPOHP:0011712
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Skeletal muscle hypertrophyHPOHP:0003712
- 1 of 1 reported patient
- Limb-girdle muscular dystrophyHPOHP:0006785
- Very frequent (80% to 99% of cases)
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.
- POMT2HGNC:19743
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autosomal recessive limb-girdle muscular dystrophy type 2N
- Also called
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2LGMD-POMT2 relatedLGMD2NMDDGC2POMT2 autosomal recessive limb-girdle muscular dystrophy