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

Author:

Eisenberg Iris,Avidan Nili,Potikha Tamara,Hochner Hagit,Chen Miriam,Olender Tsviya,Barash Mark,Shemesh Moshe,Sadeh Menachem,Grabov-Nardini Gil,Shmilevich Inna,Friedmann Adam,Karpati George,Bradley Walter G.,Baumbach Lisa,Lancet Doron,Asher Edna Ben,Beckmann Jacques S.,Argov Zohar,Mitrani-Rosenbaum Stella

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference25 articles.

1. Griggs, R.C. et al. Inclusion body myositis and myopathies. Ann. Neurol. 38, 705–713 (1995).

2. Sadeh, M. & Argov, Z. Hereditary inclusion body myopathy. in Inclusion Body Myositis and Myopathies: Jews of Persian Origin: Clinical and Laboratory Data. (eds. Askanas, V., Engel, W.K. & Serratrice, G.) 191–199 (Cambridge Press, Cambridge, 1997).

3. Argov, Z. & Yarom, R. “Rimmed vacuole myopathy” sparing the quadriceps. A unique disorder in Iranian Jews. J. Neurol. Sci. 64, 33–43 (1984).

4. Argov, Z. & Mitrani-Rosenbaum, S. Hereditary inclusion body myopathy (H-IBM) with quadriceps sparing: epidemiology and genetics. in Inclusion Body Myositis and Myopathies; (eds. Askanas, V., Engel, W.K. & Serratrice, G.) 200–210 (Cambridge Press, Cambridge, 1997).

5. Eisenberg, I. et al. Fine structure mapping of the hereditary inclusion body myopathy locus. Genomics 55, 43–48 (1999).

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