
pmid: 21376240
Agrin MuSK Dok-7Rapsyn AChR AChE ChAT Nav1.4Auto-antibodiesto AChRsAuto-antibodiesto MuSKHypomorphic mutations in thesegenes impair postsynaptic differentiation. The number of AChRs at synapses is reduced, which compromises the reliability of synaptic transmission and leads to muscle weakness and fatigue. Mutations in these genes impairsynaptic transmission, leading tomuscle weakness and fatigue. ChAT encodes the enzyme forsynthesizing ACh, and Nav1.4encodes a voltage-activatedsodium channel expressed inskeletal muscle. Cause accelerated degradationof AChRs and structural disorganization of the synapse,leading to Myasthenia GravisCause structural disorganizationof the synapse, leading toMyasthenia Gravis.
Biochemistry, Genetics and Molecular Biology(all), Cell Membrane, Neuromuscular Junction, Animals, Humans
Biochemistry, Genetics and Molecular Biology(all), Cell Membrane, Neuromuscular Junction, Animals, Humans
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| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Top 10% | |
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