Article

Structural and functional alterations of neuromuscular synapses in a mouse model of <i>ACTA1</i> congenital myopathy

2022-02-25

Abstract excerpt

Mutations in skeletal muscle α-actin (Acta1) cause a variety of myopathies. In a mouse model of congenital myopathy, heterozygous Acta1 (H40Y) knock-in ( Acta1 + /Ki ) mice exhibit features of human nemaline myopathy, including premature lethality, severe muscle weakness, reduced mobility, and the presence of nemaline rods in muscle fibers. In this study, we investigated the structure and function of the neuromu...

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Literature Corpus work: 4a5bad5e-ddb5-54c7-a66b-eafe1623fb95
DOI: 10.1101/2022.02.23.481672

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