Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
BACKGROUND: Most congenital myasthenic syndromes (CMS) have postsynaptic defects from mutations within the muscle acetylcholine receptor (AChR). Mutations underlying the slow channel syndrome cause a "gain of function" and usually show dominant inheritance, whereas mutations underlying ACh...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2004
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