EP.123Selenoprotein-related congenital myopathy in two siblings

Selenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. Typically, patients have early onset respiratory insufficiency and relatively preserved limb muscle strength. Although the precise function of SEPN1 protein is uncertain, recent studies suggest a role in cell protection against oxidative stress. Prominent involvement of diaphragm muscle and skeletal muscle which are more vulnerable to oxidative stress probably may cause early respiratory involvement.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: O. Herguner, S. Bilge, N. Ozcan, G. Gul Mert, D. Ozcanyuz, F. Incecik, S. Altunbasak Source Type: research