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Congenital myasthenic syndrome 17

MONDO:0014578

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.

Also known as: CMS17, LRP4 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in LRP4, congenital myasthenic syndrome type 17, myasthenic syndrome, congenital, type 17, myasthenic syndrome, congenital, 17

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neuromuscular disease (98) Syndromic disease (24) Human disease (14) Hereditary neurological disease (5) Congenital myasthenic syndrome (4) Hereditary neuromuscular disease (3) Disease of genetic or genomic mechanism (2)
Trials to join now! 1 Not yet recruiting 1
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  • Researchers track rare muscle disease to uncover its secrets

    Knowledge-focused Recruiting now

    This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affe…

    Sponsor: argenx • Aim: Knowledge-focused

    Last updated Jun 27, 2026 14:00 UTC

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