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={Iris Eisenberg and Nili Avidan and Tamara Potikha and Hagit Hochner and Miriam Chen and Tsviya Olender and Mark Barash and Moshe Shemesh and Menachem Sadeh and Gil Grabov-Nardini and Inna Shmilevich and Adam Friedmann and George Karpati and Walter G. Bradley and Lisa Baumbach and Doron Lancet and Edna Ben Asher and Jacques S. Beckmann and Zohar Argov and Stella Mitrani-Rosenbaum},
  journal={Nature Genetics},
  year={2001},
  volume={29},
  pages={83-87}
}
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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Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9 p 12p 13

  • I. Eisenberg
  • Eur . J . Hum . Genet .
  • 2001

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