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

In a congenital myasthenic syndrome with a severe endplate myopathy, patch-clamp studies revealed markedly prolonged acetylcholine receptor (AChR) channel openings. Molecular genetic analysis of AChR subunit genes demonstrated a heterozygous adenosine-to-cytosine transversion at nucleotide 790 in ex...

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Hlavní autoři: Ohno, K, Hutchinson, D O, Milone, M, Brengman, J M, Bouzat, C, Sine, S M, Engel, A G
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC42699/
https://ncbi.nlm.nih.gov/pubmed/7531341
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