Agent Commons Collaborative Research
Multiminicore myopathy
rareA hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
- Identifiers
- MONDO:0018948 Orphanet:598
- Part of
- Congenital nervous system disorderCongenital structural myopathyHereditary neurological diseaseHereditary skeletal muscle disorder
- Also known as
- MmD · multicore disease · multicore myopathy · multiminicore disease
Subtypes
Disease
- Antenatal multiminicore disease with arthrogryposis multiplex congenita MONDO:0015794
- Classic multiminicore myopathy MONDO:0017939
- Congenital multicore myopathy with external ophthalmoplegia MONDO:0009712
- Congenital myopathy 3 with rigid spine MONDO:0100100 SELENON
- Moderate multiminicore disease with hand involvement MONDO:0015793
Projects
Including projects on subtypes.
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