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Volumn 43, Issue 1, 2011, Pages 133-136

Hereditary inclusion-body myopathy associated with cardiomyopathy: Report of two siblings

Author keywords

Association; Cardiomyopathy; Distal myopathy with rimmed vacuoles; Echocardiogram; Exertional dyspnea; Hereditary inclusion body myopathy

Indexed keywords

CREATINE KINASE; CYCLOPHOSPHAMIDE; DOXORUBICIN; FUROSEMIDE; PREDNISONE; VINCRISTINE; ETOPOSIDE; N ACETYLMANNOSAMINE KINASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

EID: 78650456498     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21839     Document Type: Article
Times cited : (18)

References (22)
  • 4
    • 0037058765 scopus 로고    scopus 로고
    • Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
    • Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002;59:1689-1693.
    • (2002) Neurology , vol.59 , pp. 1689-1693
    • Nishino, I.1    Noguchi, S.2    Murayama, K.3    Driss, A.4    Sugie, K.5    Oya, Y.6
  • 5
    • 0036791916 scopus 로고    scopus 로고
    • A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
    • Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, et al. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Ann Neurol 2002;52:516-519.
    • (2002) Ann. Neurol. , vol.52 , pp. 516-519
    • Arai, A.1    Tanaka, K.2    Ikeuchi, T.3    Igarashi, S.4    Kobayashi, H.5    Asaka, T.6
  • 8
    • 17944366749 scopus 로고    scopus 로고
    • The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
    • Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-87.
    • (2001) Nat. Genet. , vol.29 , pp. 83-87
    • Eisenberg, I.1    Avidan, N.2    Potikha, T.3    Hochner, H.4    Chen, M.5    Olender, T.6
  • 11
    • 4544304099 scopus 로고    scopus 로고
    • Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy
    • Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, et al. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. Hum Mutat 2004;23:632.
    • (2004) Hum. Mutat. , vol.23 , pp. 632
    • Broccolini, A.1    Ricci, E.2    Cassandrini, D.3    Gliubizzi, C.4    Bruno, C.5    Tonoli, E.6
  • 14
    • 31544474090 scopus 로고    scopus 로고
    • Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
    • Kim BJ, Ki CS, Kim JW, Sung DH, Choi YC, Kim SH. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet 2006;51:137-140
    • (2006) J. Hum. Genet. , vol.51 , pp. 137-140
    • Kim, B.J.1    Ki, C.S.2    Kim, J.W.3    Sung, D.H.4    Choi, Y.C.5    Kim, S.H.6
  • 15
    • 33748672702 scopus 로고    scopus 로고
    • Erratum
    • [erratum: J Hum Genet 2006;51:840].
    • (2006) J. Hum. Genet. , vol.51 , pp. 840
  • 18
    • 2442555152 scopus 로고    scopus 로고
    • The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
    • Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey LR, Yarema KJ, et al. The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. FEBS Lett 2004;566:105-109.
    • (2004) FEBS Lett. , vol.566 , pp. 105-109
    • Hinderlich, S.1    Salama, I.2    Eisenberg, I.3    Potikha, T.4    Mantey, L.R.5    Yarema, K.J.6
  • 19
    • 19944433043 scopus 로고    scopus 로고
    • No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation
    • Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, et al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun 2005;328:221-226.
    • (2005) Biochem. Biophys. Res. Commun. , vol.328 , pp. 221-226
    • Salama, I.1    Hinderlich, S.2    Shlomai, Z.3    Eisenberg, I.4    Krause, S.5    Yarema, K.6
  • 21
    • 35549010650 scopus 로고    scopus 로고
    • A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    • DOI 10.1093/hmg/ddm220
    • Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I. A Gene knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 2007;16:2669-2682. (Pubitemid 350018509)
    • (2007) Human Molecular Genetics , vol.16 , Issue.22 , pp. 2669-2682
    • Malicdan, M.C.V.1    Noguchi, S.2    Nonaka, I.3    Hayashi, Y.K.4    Nishino, I.5
  • 22
    • 12144287262 scopus 로고    scopus 로고
    • Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
    • Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, et al. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 2004;279:11402-11407.
    • (2004) J. Biol. Chem. , vol.279 , pp. 11402-11407
    • Noguchi, S.1    Keira, Y.2    Murayama, K.3    Ogawa, M.4    Fujita, M.5    Kawahara, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.