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

Inkludionskörpermyopathie 2

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

Gliederung

Erbliche Erkrankungen der Muskeln
Inkludionskörpermyopathie 2
GNE
Nonaka-Myopathie
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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

None (1995) Hereditary disorders among Iranian Jews.

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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.

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

et al. () ////

external link
20.

OMIM.ORG article

Omim 600737 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz