| 1 | DMRV, GNE
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| Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
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| Park YE, Kim HS, Choi ES, Shin JH, Kim SY, Son EH, Lee CH, Kim DS.
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| J Neurol Sci 321(1-2):77-81. doi: 10.1016/j.jns.2012.07.061. Epub 2012 Aug 9.
2012
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| 2 | DMRV, GNE
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| Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
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| Lu X, Pu C, Huang X, Liu J, Mao Y.
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| Neurol Res 33(10):1025-31. doi: 10.1179/1743132811Y.0000000070.
2011
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| 3 | IBM21, DMRV, GNE
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| 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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| Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
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| Hum Mol Genet 16(22):2669-82. Epub 2007 Aug 18. 2007
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| 4 | DMRV, GNE
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| Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
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| Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H.
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| Neurology 62(9):1607-10. 2004
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| 5 | DMRV, GNE
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| GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
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| Yabe I, Higashi T, Kikuchi S, Sasaki H, Fukazawa T, Yoshida K, Tashiro K.
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| Neurology 61(3):384-6. 2003
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| 6 | DMRV, GNE
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| A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
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| Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S.
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| Ann Neurol 52(4):516-9. 2002
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| 7 | DMRV, GNE
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| Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
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| Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I.
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| Neurology 59(11):1689-93. 2002
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| 8 | DMRV, GNE, IBM2
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| Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
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| Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H.
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| Neurology 59(3):451-4. 2002
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| 9 | DMRV, GNE
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| Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
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| Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T.
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| J Hum Genet 47(2):77-9. 2002
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| 10 | DMRV, GNE
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| Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)
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| Asaka T, Ikeuchi K, Okino S, Takizawa Y, Satake R, Nitta E, Komai K, Endo K, Higuchi S, Oyake T, Yoshimura T, Suenaga A, Uyama E, Saito T, Konagaya M, Sunohara N, Namba R, Takada H, Honke K, Nishina M, Tanaka H, Shinagawa M, Tanaka K, Matsushima A, Tsuji S, Takamori M.
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| J Hum Genet 46(11):649-55. 2001
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| 11 | DMRV
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| Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.
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| Ikeuchi T, et al.
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| Ann Neurol 41 : 432-437. 1997
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