Nature Genetics29, 83 - 87 (2001)
Published online: 27 August 2001; | doi:10.1038/ng718
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
Iris Eisenberg, Nili Avidan, Tamara Potikha, Hagit Hochner, Miriam Chen, Tsviya Olender, Mark Barash, Moshe Shemesh, Menachem Sadeh, Gil Grabov-Nardini, Inna Shmilevich, Adam Friedmann, George Karpati, Walter G. Bradley, Lisa Baumbach, Doron Lancet, Edna Ben Asher, Jacques S. Beckmann, Zohar Argov
& Stella Mitrani-Rosenbaum