Congenital Myasthenic Syndrome Caused by Novel Loss‐of‐Function Mutations in the Human AChR ɛ Subunit Gene^a

This publication has 7 references indexed in Scilit:

• Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations
  Human Molecular Genetics, 1997
• Acetylcholine receptor ɛ-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice
  Proceedings of the National Academy of Sciences, 1996
• End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
  Annals of Neurology, 1996
• Toward a structural basis for the function of nicotinic acetylcholine receptors and their cousins
  Neuron, 1995
• Acetylcholine release in myasthenia gravis: Regulation at single end‐plate level
  Annals of Neurology, 1995
• Adaptation of quantal content to decreased postsynaptic sensitivity at single endplates in alpha‐bungarotoxin‐treated rats.
  The Journal of Physiology, 1992
• Relation between subsynaptic receptor blockade and response to quantal transmitter at the mouse neuromuscular junction.
  The Journal of general physiology, 1981