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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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| Main Authors: | , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1995
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC42699/ https://ncbi.nlm.nih.gov/pubmed/7531341 |
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