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Article

Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2009

Outteryck O, Richard P, Lacour A, Fournier E, Zéphir H, Gaudon K, Eymard B, Hantaï D, Vermersch P, Stojkovic T

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Share to Electromyography
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Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Myasthenic Syndromes, Congenital

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Share to Receptors, Cholinergic

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Source

Identifiers

PMID: 19289485
DOI: 10.1136/jnnp.2008.148189

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Related research

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Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.PMID 19289485Read ↗

Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor.Semantic proximity Read ↗

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.Semantic proximity Read ↗

Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.Semantic proximity Read ↗

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.Semantic proximity Read ↗

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.Semantic proximity Read ↗

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductanceSemantic proximity Read ↗

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

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

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.Semantic proximity Read ↗

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