Abstract
Hereditary inclusion body myopathy (IBM2) was mainly reported in Middle Eastern Jewish patients. Distal myopathy with rimmed vacuoles has been described as a worldwide distributed distal myopathy. Both diseases are caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Herein we report two patients: an Egyptian Muslim patient with the “common” Middle Eastern mutation (M712T), rarely described in non-Jewish patients; and an Italian patient carrying a novel GNE mutation (L179F) in the epimerase domain. Our patients share common clinical and histopathological features, with some interesting aspects. The first patient presented a clinical deterioration during her first pregnancy confirming that an increased requirement of sialic acid during pregnancy may trigger a clinical worsening. The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression.
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Acknowledgments
We are grateful to Stella Rosembaum for providing us a sample of control DNA for haplotype analysis. We thank Paolo Broda for excellent technical assistance.
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Grandis, M., Gulli, R., Cassandrini, D. et al. The spectrum of GNE mutations: allelic heterogeneity for a common phenotype. Neurol Sci 31, 377–380 (2010). https://doi.org/10.1007/s10072-010-0248-y
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DOI: https://doi.org/10.1007/s10072-010-0248-y