The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

@article{Eisenberg2001TheU2,
  title={The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy},
  author={I. Eisenberg and N. Avidan and T. Potikha and H. Hochner and Miriam Chen and T. Olender and M. Barash and M. Shemesh and M. Sadeh and G. Grabov-Nardini and Inna Shmilevich and A. Friedmann and G. Karpati and W. G. Bradley and L. Baumbach and D. Lancet and E. Asher and J. Beckmann and Z. Argov and S. Mitrani-Rosenbaum},
  journal={Nature Genetics},
  year={2001},
  volume={29},
  pages={83-87}
}
  • I. Eisenberg, N. Avidan, +17 authors S. Mitrani-Rosenbaum
  • Published 2001
  • Medicine, Biology
  • Nature Genetics
  • Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness… CONTINUE READING
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