Article
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
The American journal of pathology - 1 Oct 2023
Tinklenberg Jennifer A, Slick Rebecca A, Sutton Jessica, Zhang Liwen, Meng Hui, Beatka Margaret J, Vanden Avond Mark, Prom Mariah J, Ott Emily, Montanaro Federica, Heisner James, Toro Rafael, Hardeman Edna C, Geurts Aron M, Stowe David F, Hill R Blake, Lawlor Michael W
Abstract excerpt
ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for approximately 30% of nemaline myopathy (NM) cases. Previous studies of weakness in NM have focused on muscle structure and contractility, but genetic issues alone do not explain the phenotypic heterogeneity observed in patients with NM or NM mouse models. To identify...
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