Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy
Y Liu, W Lin - Human molecular genetics, 2024 - academic.oup.com
Mutations in skeletal muscle α-actin (Acta1) cause myopathies. In a mouse model of
congenital myopathy, heterozygous Acta1 (H40Y) knock-in (Acta1+/Ki) mice exhibit features …
congenital myopathy, heterozygous Acta1 (H40Y) knock-in (Acta1+/Ki) mice exhibit features …
Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy
Nemaline myopathies are the most common form of congenital myopathies. Variants in
ACTA1 (NEM3) comprise 15–25% of all nemaline myopathy cases. Patients harboring …
ACTA1 (NEM3) comprise 15–25% of all nemaline myopathy cases. Patients harboring …