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P2.39 Mutation of alpha subunit of acetylcholine receptor causing slow-channel congenital myasthenic syndrome in a Thai family

โœ Scribed by R. Witoonpanich; T. Pulkes; C. Dejthevaporn; P. Yodnopklao; P. Witoonpanich; S. Wetchaphanphesat; J. Brengman; A. Engel


Book ID
116794541
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
36 KB
Volume
20
Category
Article
ISSN
0960-8966

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Mutation of the acetylcholine receptor ฮต
โœ Philip Nichols; Rebecca Croxen; Angela Vincent; Richard Rutter; Michael Hutchins ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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