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Neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1

MONDO:0016197

Also known as: qualitative or quantitative defects of selenoprotein N1

1 clinical trial for this condition and its sub-types.

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Sub-types

Multiminicore myopathy (1) Rigid spine muscular dystrophy 1 (1) Antenatal multiminicore disease with arthrogryposis multiplex congenita (0) Classic multiminicore myopathy (0) Congenital multicore myopathy with external ophthalmoplegia (0) Desmin-related myopathy with Mallory body-like inclusions (0) Moderate multiminicore disease with hand involvement (0) Rigid spine syndrome (0)

Broader categories

Disease (679) Nervous system disorder (231) Human disease (14) Disease by body system or component (0) Qualitative or quantitative protein defects in neuromuscular diseases (0)
Trials to join now! 1
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  • 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

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