Article
Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes.
Skeletal muscle - 15 Mar 2025
Barraza-Flores Pamela, Moghadaszadeh Behzad, Lee Won, Isaac Biju, Sun Liang, Hickey Emily T, Rockowitz Shira, Sliz Piotr, Beggs Alan H
Abstract excerpt
BACKGROUND: SELENON-Congenital Myopathy (SELENON-CM) is a rare congenital myopathy caused by mutations of the SELENON gene characterized by axial muscle weakness and progressive respiratory insufficiency. Muscle histopathology may be non-specific, but commonly includes multiminicores or a dystrophic pattern. The SELENON gene encodes selenoprotein N (SelN), a selenocysteine-containing redox enzyme located in the...
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