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Congenital myasthenic syndrome 3A

MONDO:0014583

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.

Also known as: CMS3A, congenital myasthenic syndrome type 3A, myasthenic syndrome, congenital, 3A, slow-channel

1 clinical trial 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)
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  • Gene therapy readiness check: new study maps virus immunity in muscle disease patients

    Knowledge-focused Not yet recruiting

    This study will test blood samples from 450 people aged 6 to 60 with inherited neuromuscular diseases to see if they have antibodies that could block gene therapy viruses (AAVs). The goal is to understand how common these antibodies are and which patients might be good candidates…

    Phase: NA • Sponsor: Genethon • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:04 UTC

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