TY  - GEN
AU  - Shen,Xin-Ming
AU  - Brengman,Joan M
AU  - Shen,Shelley
AU  - Durmus,Hacer
AU  - Preethish-Kumar,Veeramani
AU  - Yuceyar,Nur
AU  - Vengalil,Seena
AU  - Nalini,Atchayaram
AU  - Deymeer,Feza
AU  - Sine,Steven M
AU  - Engel,Andrew G
TI  - Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit
SN  - 2379-3708
PY  - 2019///1028
KW  - Adult
KW  - Arginine
KW  - genetics
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Evoked Potentials, Motor
KW  - physiology
KW  - Female
KW  - Glutamic Acid
KW  - HEK293 Cells
KW  - Homozygote
KW  - Humans
KW  - Muscle, Skeletal
KW  - pathology
KW  - Mutation
KW  - Myasthenic Syndromes, Congenital
KW  - Patch-Clamp Techniques
KW  - Receptors, Nicotinic
KW  - Recombinant Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1172/jci.insight.97826
ER  -