Abstract
Hereditary inclusion body myopathy (HIBM) is a unique worldwide muscular disorder caused by mutations in the GNE gene. The gene product of GNE is a bifunctional enzyme which is the limiting factor in the biosynthetic pathway of sialic acid. However, there is no evidence of sialylation impairment in most HIBM patients, and the underlying myopathological mechanism leading to the disease phenotype is poorly understood. For further insights in this pathophysiology, we have established a cellular model of human myoblasts, derived from HIBM patients satellite cells, and identified cellular and molecular characteristics of these cells.
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