Nonaka myopathy (NM)

Definition:

Nonaka myopathy, also known as hereditary inclusion body myopathy (HIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic acid biosynthesis. The presence of scattered small angular and atrophic fibers.

References:

[1]. Bjarne Udd, et al. Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. Biochim Biophys Acta. 2007 Feb;1772(2):145-58. [Content Brief]

[2]. I Eisenberg, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7. [Content Brief]

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