Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor (Q47671697)

4 February 2018

title

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor (English)

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author

Kinji Ohno

1

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author name string

Anlar B

2

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Ozdirim E

3

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Brengman JM

4

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DeBleecker JL

5

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Engel AG

6

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publication date

1 August 1998

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published in

Annals of Neurology

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volume

44

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issue

2

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page(s)

234-241

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A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

cites work

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Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity

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Mutation in the M1 domain of the acetylcholine receptor alpha subunit decreases the rate of agonist dissociation

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Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome

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New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

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A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome

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Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit

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End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

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Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

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The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA

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Identifiers

DOI

10.1002/ANA.410440214

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4 February 2018

PubMed ID

9708546

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4 February 2018