Klinik: 

Definition: Die Nonaka-Myopathie ist eine autosomal rezessive Erkrankung die durch Mutationen des GNE-Gens hervorgerufen wird.

Literatur: 

Asaka T et al. (2001) Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).
Eisenberg I et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Hinderlich S et al. (2003) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Ikeuchi T et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.
Kayashima T et al. (2002) Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Kim BJ et al. (2006) Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
Malicdan MC et al. (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
Murakami N et al. (1995) Muscle fiber degeneration in distal myopathy with rimmed vacuole formation.
Nishino I et al. (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nonaka I et al. (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.
Tomimitsu H et al. (2002) Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Yabe I et al. (2003) GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.