(Q52065965)

21 April 2018

title

73(rd) ENMC International Workshop: congenital myasthenic syndromes. 22-23 October, 1999, Naarden, The Netherlands. (English)

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21 April 2018

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Engel AE

1

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21 April 2018

publication date

1 April 2001

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21 April 2018

published in

Neuromuscular Disorders

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21 April 2018

volume

11

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21 April 2018

issue

3

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21 April 2018

page(s)

315-321

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21 April 2018

Congenital myasthenic syndromes: recent advances

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Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

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Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

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Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release

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Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

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Congenital endplate acetylcholinesterase deficiency

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Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit

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A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel

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Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes

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

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Identifiers

DOI

1 reference

21 April 2018

PubMed ID

11297949

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21 April 2018