68P Induced muscle and liver absence of Gne in postnatal mice does not result in structural or functional muscle impairment

• Published in: Neuromuscular disorders : NMD Vol. 43; p. 104441
• Main Authors: Mitrani-Rosenbaum, S., Harazi, A., Yakovlev, L., Ilouz, N., Selke, P., Horstkorte, R., Argov, Z.
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.10.2024

GNE Myopathy is a unique recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, caused by mutations in the GNE gene, which is a key enzyme in the biosynthesis of sialic acid. To date, the precise pathophysiology of the disease is not we...