DOK7 congenital myasthenic syndrome.
Despite being a fairly recent discovery, DOK7 congenital myasthenic syndrome (CMS) is the third most common form of CMS in the United Kingdom. DOK7 is a postsynaptic protein associated with the AChR clustering pathway. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CM...
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| Format: | Journal article |
| Language: | English |
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2012
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