Congenital myasthenic syndrome 3A
MONDO:0014583A 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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