Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Nonaka-Myopathie

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

Gliederung

Erbliche Erkrankungen der Muskeln
Inkludionskörpermyopathie 2
Nonaka-Myopathie
GNE
Polyglucosan-Körper-Myopathie Typ 1

Referenzen:

1.

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

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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.

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

OMIM.ORG article

Omim 605820 external link
14.

Orphanet article

Orphanet ID 599 external link
15.

Orphanet article

Orphanet ID 602 external link
Update: 14. August 2020
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