Article
ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
Experimental cell research - 15 Mar 2023
Gartz Melanie, Haberman Margaret, Sutton Jessica, Slick Rebecca A, Luttrell Shawn M, Mack David L, Lawlor Michael W
Abstract excerpt
Nemaline myopathies (NM) are a group of congenital myopathies that lead to muscle weakness and dysfunction. While 13 genes have been identified to cause NM, over 50% of these genetic defects are due to mutations in nebulin (NEB) and skeletal muscle actin (ACTA1), which are genes required for normal assembly and function of the thin filament. NM can be distinguished on muscle biopsies due to the presence of...
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