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Letter

Nature Genetics 29, 83–87 (1 September 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

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.