Klinik: 

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

Literatur: 

Adam A et al. (1981) Occurrence of four types of growth hormone-related dwarfism in Israeli communities.
Argov Z et al. (1984) "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews.
Argov Z et al. (2003) Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.
Broccolini A et al. (2002) An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.
et al. ()
Eisenberg I et al. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I et al. (2001) Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.
Eisenberg I et al. (1999) Fine-structure mapping of the hereditary inclusion body myopathy locus.
Ikeuchi T et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.
Krause S et al. (2007) GNE protein expression and subcellular distribution are unaltered in HIBM.
Malicdan MC et al. (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
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.
Massa R et al. (1991) Familial inclusion body myositis among Kurdish-Iranian Jews.
Mitrani-Rosenbaum S et al. (1996) Hereditary inclusion body myopathy maps to chromosome 9p1-q1.
Ricci E et al. (2006) NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
Sadeh M et al. (1993) Vacuolar myopathy sparing the quadriceps.
Sivakumar K et al. (1995) Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.
Vasconcelos OM et al. (2002) GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.
Zlotogora J et al. (1995) Hereditary disorders among Iranian Jews.