Nonaka-Myopathie

Eisenberg I et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Malicdan MC et al. (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.

Ikeuchi T et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.

Asaka T et al. (2001) Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).

Kayashima T et al. (2002) Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

Tomimitsu H et al. (2002) Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.

Nishino I et al. (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

Hinderlich S et al. (2003) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

Yabe I et al. (2003) GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.

Kim BJ et al. (2006) Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.

Nonaka I et al. (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.

Murakami N et al. (1995) Muscle fiber degeneration in distal myopathy with rimmed vacuole formation.

OMIM.ORG article

Orphanet article

Orphanet article