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Article

Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.

Human molecular genetics - 20 Jan 2024

Liu Yun, Lin Weichun

Abstract excerpt

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 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 impact of Acta1 (H40Y) mutation on the neuromuscular...

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Identifiers

PMID: 37883471
DOI: 10.1093/hmg/ddad183
PMCID: PMC10800017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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