Population
Four unrelated families with Acetylcholine receptor deficiency syndrome due to homozygous epsilon-subunit…
Design
Other
Authors
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Persistent gamma expression may sustain survival in epsilon-null CMS; leaves open targeted subunit modulation.
In AChR deficiency syndrome due to epsilon-subunit null mutations, epsilon-subunit mRNA is neither upregulated nor degraded preferentially, and persistent low-level gamma-subunit expression likely enables survival.
R Croxen (2001) studied this question.
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