Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.

Shen, Xin-Ming

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit. [electronic resource] - JCI insight 01 2018

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

2379-3708

10.1172/jci.insight.97826 doi


Adult
Arginine--genetics
Consanguinity
DNA Mutational Analysis
Evoked Potentials, Motor--physiology
Female
Glutamic Acid--genetics
HEK293 Cells
Homozygote
Humans
Muscle, Skeletal--pathology
Mutation
Myasthenic Syndromes, Congenital--genetics
Patch-Clamp Techniques
Receptors, Nicotinic--genetics
Recombinant Proteins--genetics