P.188 Early growth and metabolic abnormalities in zebrafish and cellular models of SELENON-related myopathy

SELENON-Related Myopathy (SELENON-RM) is a rare genetic disease caused by recessive mutations of the SELENON gene. It is characterized by the development of rigid spine, axial muscle weakness, and respiratory insufficiency. The most common histopathological feature in SELENON-RM patients is the presence of minicores in skeletal muscle biopsies, which are concentrated areas of mitochondrial depletion within fibers. Natural history data suggest that insulin-resistance as well as altered body mass index (BMI) are correlated with SELENON-RM prognosis.

Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: P. Barraza-Flores, B. Moghadaszadeh, B. Mitchell, E. Troiano, A. Mansur, V. Gupta Source Type: research