Die Nonaka-Myopathie ist eine autosomal rezessive Erkrankung die durch Mutationen des GNE-Gens hervorgerufen wird.
Erbliche Erkrankungen der Muskeln | ||||
Inkludionskörpermyopathie 2 | ||||
Nonaka-Myopathie | ||||
GNE | ||||
Polyglucosan-Körper-Myopathie Typ 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. |
Malicdan MC et al. (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. |
3. |
Ikeuchi T et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. |
4. |
Asaka T et al. (2001) Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy). |
5. |
Kayashima T et al. (2002) Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). |
6. |
Tomimitsu H et al. (2002) Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. |
7. |
Nishino I et al. (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. |
8. |
Hinderlich S et al. (2003) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. |
9. |
Yabe I et al. (2003) GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. |
10. |
Kim BJ et al. (2006) Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. |
11. |
Nonaka I et al. (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. |
12. |
Murakami N et al. (1995) Muscle fiber degeneration in distal myopathy with rimmed vacuole formation. |
13. |
OMIM.ORG article Omim 605820 |
14. |
Orphanet article Orphanet ID 599 |
15. |
Orphanet article Orphanet ID 602 |