Article
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Neuromuscular disorders : NMD - 1 Feb 2023
Rodríguez Cruz Pedro M, Ravenscroft Gianina, Natera Daniel, Carr Aisling, Manzur Adnan, Liu Wei Wei, Vella Norbert R, Jericó Ivonne, Gonzalez-Quereda Lidia, Gallano Pia, Montalto Simon Attard, Davis Mark R, Lamont Phillipa J, Laing Nigel G, Bourque Pierre, Nascimento Andres, Muntoni Francesco, Polavarapu Kiran, Lochmüller Hanns, Palace Jacqueline, Beeson David
Abstract excerpt
Primary acetylcholine receptor deficiency is the most common subtype of congenital myasthenic syndrome, resulting in reduced amount of acetylcholine receptors expressed at the muscle endplate and impaired neuromuscular transmission. AChR deficiency is caused mainly by pathogenic variants in the ε-subunit of the acetylcholine receptor encoded by CHRNE, although pathogenic variants in other subunits are also seen....
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