Reconstituted receptors containing wild-type or mutant alpha are measured on the cell surface.

The alpha-containing heteropentamer provides intersubunit ligand interfaces and a shared transmembrane pore.

Severe human CHRNA1 defects associate with fetal akinesia and reduced muscle mass; a direct growth step is not resolved from impaired movement, and the proposed early mesodermal role remains speculative.

Acetylcholine-evoked receptor currents are inhibited by lidocaine in the tested transplanted-receptor system.

Human alpha-subunit pore residues contribute to receptor gating; intact-cell measurements establish surface expression.

The alphaG153S variant alters agonist affinity and channel opening in slow-channel myasthenia.

AlphaN217K changes channel behavior; the measured human injury and electrical failure are at muscle endplates, supporting muscle-specific source refinements.

Human alphaV249F increases activation/desensitization and agonist affinity, prolonging endplate responses and causing postsynaptic injury.

Slow-channel syndrome treatment can improve muscle strength and compound muscle electrophysiology.

CHRNA1 is an explicit plasma-membrane member of the curated receptor sets used by this reaction.

CHRNA1 is an explicit plasma-membrane member of the curated receptor sets used by this reaction.

CHRNA1 is an explicit plasma-membrane member of the curated receptor sets used by this reaction.

CHRNA1 is an explicit plasma-membrane member of the curated receptor sets used by this reaction.

The alpha+ product was not incorporated into functional receptors in the tested expression system.

Alpha1-containing human receptors conduct calcium; epsilon largely explains the high adult calcium fraction, while the tested alpha disease mutations do not change that fraction.