Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Inkludionskörpermyopathie 2

Die Inkludionskörpermyopathie 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen des GNE-Gens hervorgerufen wird.

Gliederung

Glycolipidose
Infantile Sialinsäurespeicherkrankheit
Inkludionskörpermyopathie 2
GNE
Nonaka-Myopathie
Salla Erkrankung
Sialurie

Referenzen:

1.

et al. () //

2.

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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3.

Broccolini A et al. (2002) An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

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4.

Eisenberg I et al. (2001) Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.

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5.

Vasconcelos OM et al. (2002) GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.

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6.

Argov Z et al. (2003) Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.

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7.

Ricci E et al. (2006) NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.

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8.

Krause S et al. (2007) GNE protein expression and subcellular distribution are unaltered in HIBM.

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9.

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.

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10.

Massa R et al. (1991) Familial inclusion body myositis among Kurdish-Iranian Jews.

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11.

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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12.

Argov Z et al. (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews.

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13.

Adam A et al. (1981) Occurrence of four types of growth hormone-related dwarfism in Israeli communities.

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14.

Zlotogora J et al. (1995) Hereditary disorders among Iranian Jews.

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15.

Sivakumar K et al. (1995) Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.

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16.

Sadeh M et al. (1993) Vacuolar myopathy sparing the quadriceps.

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17.

Mitrani-Rosenbaum S et al. (1996) Hereditary inclusion body myopathy maps to chromosome 9p1-q1.

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18.

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

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19.

Eisenberg I et al. (1999) Fine-structure mapping of the hereditary inclusion body myopathy locus.

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