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
Titel:
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
Auteur:
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