Distal myopathy with rimmed vacuoles

KO/Tg Distal myopathy with rimmed vacuoles (DMRV)... 

Malicdan, M. C., Noguchi, S., Nonaka, I., Hayashi, Y. K. and Nishino, I. (2007) A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 16, 2669-2682. 

Function and mutations of the GNE gene leading to distal myopathy with rimmed vacuoles/hereditary inclusion-body myopathy, animal models, and potential treatment... 

Nonakal, Sunohara N, Ishiura S, SatoyoshiB. (1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 51, 141-155. 

Kumamoto T, Ito T, Horinouchi, H et al. (2000) Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles. Muscle Nerve 2, 1686-1693. 

Yabe I, Higashi T, Kikuchi S et al. (2003) GNB mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology 61, 384-386. 

Ikeuchi T, Asaka T, Saito M et al. (1997) Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 41, 432-437. 

Noguchi S, Keira Y, Murayama K et al. (2004) Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetyhnaimosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 279, 11402-11407. 

Other distal myopathies with rimmed vacuoles [18] these other conditions are at times very hard to distinguish from DMRV/h-IBM especiaUy in the early phase, where quadriceps sparing is not apparent. Molecular analysis maybe mandatory for correct diagnosis. 

Nishino I, Noguchi S, Murayama K et al. (2002) Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 59, 1689-1693. 

Nahni A, Gayathri N (2009) Distal myopathy with rimmed vacuoles (DMRV) Experience of a rare disorder (abstract). NeuromusclDisord 19, 568. 

Kim BJ, Ki CS, Kim JW et al. (2006) Mutation analysis of the GNB gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet 51,137-140. 

Chu C, Kuo H, Yeh T, et al. (2007) Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. Clinic Neurol Neurosurg 109, 250-256. 

Yan C, Ikezoe K, Nonaka I. (2001) Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles. AUa Neuropathol 101(1), 9-16. 

Malicdan MC, Noguchi S, Nishino I. (2007) Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy Acta Myol 26(3), 171-175. 

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