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Multiminicore myopathy

MONDO:0018948

A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.

Also known as: MmD, multicore disease, multicore myopathy, multiminicore disease

1 clinical trial for this condition and its sub-types, 1 tagged with Multiminicore myopathy itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary neurological disease (5772) ↑ Neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1 (1)

Sub-types of Multiminicore myopathy

Rigid spine muscular dystrophy 1 1 trial
1 sub-type
- Desmin-related myopathy with Mallory body-like inclusions 0 trials
Antenatal multiminicore disease with arthrogryposis multiplex congenita 0 trials
Classic multiminicore myopathy 0 trials
Congenital multicore myopathy with external ophthalmoplegia 0 trials
Moderate multiminicore disease with hand involvement 0 trials

Including sub-types (1) Tagged with Multiminicore myopathy (1)

Trials to join now! 1

Gene hunt for rare muscle diseases could unlock future treatments

Knowledge-focused Recruiting now

This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:00 UTC