| H00596 | |
| H number | H00596 |
| Name | Nonaka myopathy (NM); Nonaka distal myopathy; Hereditary inclusion body myopathy (HIBM) |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | GNE [HSA:10020] [KO:K12409] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C75 ICD-10: G71.8 MeSH: C536816 OMIM: 605820 |
| Reference | PMID:18646567 AUTHORS Malicdan MC, Noguchi S, Nishino I TITLE Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? JOURNAL Acta Myol 26:171-5 (2007) PMID:17029922 AUTHORS Udd B TITLE Molecular biology of distal muscular dystrophies--sarcomeric proteins on top. JOURNAL Biochim Biophys Acta 1772:145-58 (2007) DOI:10.1016/j.bbadis.2006.08.005 PMID:11528398 AUTHORS Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S TITLE The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. JOURNAL Nat Genet 29:83-7 (2001) DOI:10.1038/ng718 |