Abstract
Hereditary inclusion-body myopathy (HIBM) is an autosomal recessive disorder characterized by onset in the second–third decade of life, associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that codes for a bifunctional enzyme with a critical role in sialic acid biosynthesis. We now describe four HIBM patients with atypical and severe phenotype, characterized by an early onset in the first decade of life and a rather aggressive progression of muscle weakness.
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