congenital multicore myopathy with external ophthalmoplegia
Findings
No curated finding names congenital multicore myopathy with external ophthalmoplegia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.
Definition from the Mondo Disease Ontology (MONDO:0009712), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
52 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
- 11 of 11 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Minicore myopathyHPOHP:0003789
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Frequent (30% to 79% 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.
- RYR1HGNC:10483
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: congenital multicore myopathy with external ophthalmoplegia
- Also called
- minicore myopathy, antenatal onset, with arthrogryposis