Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations

Mutation of the acetylcholine receptor ε

Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome

✍ Philip Nichols; Rebecca Croxen; Angela Vincent; Richard Rutter; Michael Hutchins 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 713 KB

Congenital myasthenic syndrome comprises a heterogeneous group of inherited disorders of neuromuscular transmission. Acetylcholine receptor (AChR) deficiency is the most common form of congenital myasthenic syndrome and in most cases results from mutations within the coding region of the AChR subuni