Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen.
William David ArnoldSteven SeverynSongzhu ZhaoDavid KlineMatthew LinsenmayerKristina KellyMarco TellezAmy BartlettSarah HeintzmanJerry ReynoldsGary SterlingTristan WeaverKiran RajneeshArthur H M BurghesStephen J KolbBakri ElsheikhPublished in: BMJ neurology open (2021)
Adults with SMA had significant NMJ transmission defects that were not corrected with 14 months of nusinersen treatment. NMJ defects were negatively associated with physical function, and thus may represent a promising target for additive or combinatorial treatments.
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