multiminicore myopathy
MONDO:0018948Mondo
Findings
No curated finding names multiminicore myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
Definition from the Mondo Disease Ontology (MONDO:0018948), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Minicore myopathyHPOHP:0003789
- Very frequent (80% to 99% of cases)
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Very frequent (80% to 99% of cases)
- Abnormal muscle fiber morphologyHPOHP:0004303
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Frequent (30% to 79% of cases)
- Proximal upper limb muscle weaknessHPOHP:0008997
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
Show the remaining 9
- Respiratory insufficiency due to muscle weaknessHPOHP:0002747
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Spinal rigidityHPOHP:0003306
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: multiminicore myopathy
- Also called
- MmDmulticore diseasemulticore myopathymultiminicore disease