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EAN 2021 | Aspects of fetal and adult AChR function that remain unanswered

David Beeson, MA, PhD, Department of Clinical Neurology, University of Oxford, Oxford, UK, discusses the variable spectrum of severity in genetic neuromuscular disorders. Some patients with epsilon-null mutations in the acetylcholine receptors (AChRs) have minimally affected movement and muscle strength, whereas others are severely disabled and have little to no muscle strength. Similarly, a gamma mutation in AChRs can be fatal in utero for some. Conversely, some patients with gamma mutations survive through childhood, and the adult form of the receptor takes over. Therefore, the factors that govern expression levels of the fetal and adult forms of the receptors and so the severity of genetic neuromuscular disorders remain unknown. This interview took place during the European Academy of Neurology 2021 congress.