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Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ϵ subunit gene

✍ Scribed by K Ohno; B Anlar; A.G Engel


Book ID
117671027
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
237 KB
Volume
9
Category
Article
ISSN
0960-8966

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Mutation of the acetylcholine receptor ε
✍ 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