Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

doi:10.1017/S1462399407000427

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Article

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Expert reviews in molecular medicine - 9 Aug 2007

Müller Juliane S, Mihaylova Violeta, Abicht Angela, Lochmüller Hanns

Abstract excerpt

The neuromuscular junction (NMJ) is a complex structure that efficiently communicates the electrical impulse from the motor neuron to the skeletal muscle to induce muscle contraction. Genetic and autoimmune disorders known to compromise neuromuscular transmission are providing further insights into the complexities of NMJ function. Congenital myasthenic syndromes (CMSs) are a genetically and phenotypically...

Topics

Acetylcholinesterase
Animals
Collagen
Disease Models, Animal
Humans
Mice
Muscle Proteins
Mutation
Myasthenic Syndromes, Congenital
Receptors, Cholinergic
Synaptic Transmission

Source

Open in PubMed

Identifiers

PMID: 17686188
DOI: 10.1017/S1462399407000427

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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