Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene
The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations in the COLQ gene are inherited in an autosomal-rec...
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Frontiers Media S.A.,
2021-11-01T00:00:00Z.
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