polyglucosan body myopathy type 2
Findings
No curated finding names polyglucosan body myopathy type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014526), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset · Middle age onset · Slowly progressive · Young adult onset · 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.
- Muscle fiber inclusion bodiesHPOHP:0100299
- 7 of 7 reported patients
- Muscle fiber polyglucosan inclusion bodiesHPOHP:0034766
- 5 of 5 reported patients
- Pelvic girdle muscle weaknessHPOHP:0003749
- 6 of 7 reported patients
- Shoulder girdle muscle weaknessHPOHP:0003547
- 4 of 7 reported patients
- Muscle fibrillationHPOHP:0010546
- 3 of 7 reported patients
- Pelvic girdle amyotrophyHPOHP:0008946
- 2 of 7 reported patients
- Distal 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.
- GYG1HGNC:4699
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: polyglucosan body myopathy type 2
- Also called
- GYG1 polyglucosan body myopathypolyglucosan body myopathy caused by mutation in GYG1