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Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor

✍ Scribed by Andrew G. Engel; Alexandre Nagel; Timothy J. Walls; C. Michel Harper; Hector A. Waisburg

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
992 KB
Volume
16
Category
Article
ISSN
0148-639X

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✍ 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