Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Barbara JoureauJosine Marieke de WinterStefan ConijnSylvia J P BogaardsIgor KovacevicAlbert KalganovMalin PerssonJohan LindqvistGer J M StienenThomas C IrvingWeikang MaMichaela YuenNigel F ClarkeDilson Etcheverry RassierEdoardo MalfattiNorma B RomeroAlan H BeggsCoen A C Ottenheijm

Published in: Annals of neurology (2018)

Dysfunctional sarcomere contractility is an important contributor to muscle weakness in the majority of NEM3 patients. This information is crucial for patient stratification in future clinical trials. Ann Neurol 2018;83:269-282.

Keyphrases

clinical trial
end stage renal disease
skeletal muscle
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
smooth muscle
case report
healthcare
health information
open label