학술논문
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
Document Type
Article
Author
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
Source
In Neuromuscular Disorders February 2023 33(2):161-168
Subject
Language
ISSN
0960-8966