Congenital myasthenic syndrome 4B

MONDO:0014586

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Also known as: CMS4B, congenital myasthenic syndrome type 4B, myasthenic syndrome, congenital, 4B, FAST-channel

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Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Neuromuscular disease (110) Syndromic disease (25) Human disease (15) Hereditary neurological disease (6) Congenital myasthenic syndrome (5) Hereditary neuromuscular disease (3) Disease of genetic or genomic mechanism (2)

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