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. (2023)
Attributed to:
Disease mechanisms and therapy for inherited disorders of the neuromuscular synapse.
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1016/j.nmd.2022.12.011
PubMed Identifier: 36634413
Publication URI: http://europepmc.org/abstract/MED/36634413
Type: Journal Article/Review
Volume: 33
Parent Publication: Neuromuscular disorders : NMD
Issue: 2
ISSN: 0960-8966