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Volumn 4, Issue 2, 2012, Pages 120-125

Novel mutations of the GNE gene in distal myopathy with rimmed vacuoles presenting with very slow progression

Author keywords

Distal myopathy with rimmed vacuoles; Sialic acid; UDP N acetylglucosamine 2 epimerase and N acetylmannosamine kinase

Indexed keywords

PHOSPHOTRANSFERASE; UDP N ACETYLGLUCOSAMINE 2 EPIMERASE AND N ACETYLMANNOSAMINE KINASE; UNCLASSIFIED DRUG;

EID: 84866707129     PISSN: None     EISSN: 1662680X     Source Type: Journal    
DOI: 10.1159/000341561     Document Type: Article
Times cited : (6)

References (12)
  • 1
    • 0019481203 scopus 로고
    • Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
    • DOI 10.1016/0022-510X(81)90067-8
    • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E: Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155. (Pubitemid 11078511)
    • (1981) Journal of the Neurological Sciences , vol.51 , Issue.1 , pp. 141-155
    • Nonaka, I.1    Sunohara, N.2    Ishiura, S.3    Satoyoshi, E.4
  • 2
    • 0021320516 scopus 로고
    • 'Rimmed vacuole myopathy' sparing the quadriceps. A unique disorder in Iranian Jews
    • DOI 10.1016/0022-510X(84)90053-4
    • Argov Z, Yarom R: 'Rimmed vacuole myopathy' sparing the quadriceps: A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43. (Pubitemid 14149184)
    • (1984) Journal of the Neurological Sciences , vol.64 , Issue.1 , pp. 33-43
    • Argov, Z.1    Yarom, R.2
  • 6
    • 2342500835 scopus 로고    scopus 로고
    • Distal myopathy with rimmed vacuoles (DMRV): New GNE mutations and splice variant
    • Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H: Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. Neurology 2004;62:1607-1610. (Pubitemid 38608206)
    • (2004) Neurology , vol.62 , Issue.9 , pp. 1607-1610
    • Tomimitsu, H.1    Shimizu, J.2    Ishikawa, K.3    Ohkoshi, N.4    Kanazawa, I.5    Mizusawa, H.6
  • 11
    • 33847055490 scopus 로고    scopus 로고
    • Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family
    • Chu CC, Kuo HC, Yeh TH, Ro LS, Chen SR, Huang CC: Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. Clin Neurol Neurosurg 2007;109:250-256.
    • (2007) Clin Neurol Neurosurg , vol.109 , pp. 250-256
    • Chu, C.C.1    Kuo, H.C.2    Yeh, T.H.3    Ro, L.S.4    Chen, S.R.5    Huang, C.C.6
  • 12
    • 67349234199 scopus 로고    scopus 로고
    • Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
    • Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I: Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 2009;15:690-695.
    • (2009) Nat Med , vol.15 , pp. 690-695
    • Malicdan, M.C.1    Noguchi, S.2    Hayashi, Y.K.3    Nonaka, I.4    Nishino, I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.