Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Arpana SilwalAnna SarkozyMariacristina ScotoDeborah RidoutAnne SchmidtAidan LavertyMatilde HenriquesLuigi D'ArgenzioMarion MainRachael MeinAdnan Y ManzurFrancois AbelFouad Al-GhamdiCasie A GenettiDidem ArdicliGoknur HalilogluHaluk TopalogluAlan H BeggsFrancesco Muntoni

Published in: Annals of clinical and translational neurology (2020)

This comprehensive analysis of patients with Selenoprotein N-related myopathy further describes the clinical course of this rare condition. The observed functional motor and respiratory data provide evidence of the slow decline patients experience over time which is useful when considering therapeutic intervention.

Keyphrases

clinical trial
end stage renal disease
randomized controlled trial
newly diagnosed
ejection fraction
late onset
chronic kidney disease
peritoneal dialysis
electronic health record
muscular dystrophy
big data
artificial intelligence
respiratory tract
data analysis
patient reported