Inclusion body myopathy 2 is an autosomal recessive disorder that is caused by mutations of the GNE gene.
Hereditary muscle diseases | ||||
Inclusion body myopathy 2 | ||||
GNE | ||||
Nonaka myopathy | ||||
Polyglucosan body myopathy type 1 | ||||
1. |
Eisenberg I et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. |
2. |
Eisenberg I et al. (1999) Fine-structure mapping of the hereditary inclusion body myopathy locus. |
3. |
Ikeuchi T et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. |
4. |
Mitrani-Rosenbaum S et al. (1996) Hereditary inclusion body myopathy maps to chromosome 9p1-q1. |
5. |
Sadeh M et al. (1993) Vacuolar myopathy sparing the quadriceps. |
6. |
Sivakumar K et al. (1995) Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy. |
7. |
None (1995) Hereditary disorders among Iranian Jews. |
8. |
Adam A et al. (1981) Occurrence of four types of growth hormone-related dwarfism in Israeli communities. |
9. |
Argov Z et al. (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. |
10. |
Malicdan MC et al. (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. |
11. |
Massa R et al. (1991) Familial inclusion body myositis among Kurdish-Iranian Jews. |
12. |
Malicdan MC et al. (2007) A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. |
13. |
Krause S et al. (2007) GNE protein expression and subcellular distribution are unaltered in HIBM. |
14. |
Ricci E et al. (2006) NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. |
15. |
Argov Z et al. (2003) Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. |
16. |
Vasconcelos OM et al. (2002) GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. |
17. |
Eisenberg I et al. (2001) Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13. |
18. |
Broccolini A et al. (2002) An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene. |
19. |
et al. () //// |
20. |
OMIM.ORG article Omim 600737 |