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Volumn 60, Issue 4, 2003, Pages 657-664

Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum

Author keywords

[No Author keywords available]

Indexed keywords

UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 9;

EID: 0037465516     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000054481.84978.F9     Document Type: Article
Times cited : (384)

References (30)
  • 2
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori C, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.1    Ricker, K.2    Moseley, M.L.3
  • 3
    • 0027982349 scopus 로고
    • Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
    • Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
    • (1994) Neurology , vol.44 , pp. 1448-1452
    • Ricker, K.1    Koch, M.C.2    Lehmann-Horn, F.3
  • 4
    • 0031000214 scopus 로고    scopus 로고
    • Proximal myotonic dystrophy: A family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
    • Udd B, Krahe R, Wallgren-Petterson C, Falck B, Kalimo H. Proximal myotonic dystrophy: a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 1997;7:217-228.
    • (1997) Neuromuscul Disord , vol.7 , pp. 217-228
    • Udd, B.1    Krahe, R.2    Wallgren-Petterson, C.3    Falck, B.4    Kalimo, H.5
  • 5
    • 0028334933 scopus 로고
    • Myotonic dystrophy with no trinucleotide repeat expansion
    • Thornton CA, Griggs RC, Moxley RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
    • (1994) Ann Neurol , vol.35 , pp. 269-272
    • Thornton, C.A.1    Griggs, R.C.2    Moxley, R.T.3
  • 6
    • 0032995065 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    • Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LPW. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscul Disord 1999;9:19-27.
    • (1999) Neuromuscul Disord , vol.9 , pp. 19-27
    • Day, J.W.1    Roelofs, R.2    Leroy, B.3    Pech, I.4    Benzow, K.5    Ranum, L.P.W.6
  • 7
    • 0033846806 scopus 로고    scopus 로고
    • Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q
    • Schneider C, Ziegler A, Ricker K, et al. Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q. Neurology 2000;55:383-388.
    • (2000) Neurology , vol.55 , pp. 383-388
    • Schneider, C.1    Ziegler, A.2    Ricker, K.3
  • 8
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • Warner JP, Barron LH, Goudie D, et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996;33:1022-1026.
    • (1996) J Med Genet , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3
  • 9
    • 0036158131 scopus 로고    scopus 로고
    • Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10
    • Matsuura T, Ashizawa T. Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Ann Neurol 2002;51:271-272.
    • (2002) Ann Neurol , vol.51 , pp. 271-272
    • Matsuura, T.1    Ashizawa, T.2
  • 10
    • 0029886586 scopus 로고    scopus 로고
    • The use of discordant sibling pairs for finding genetic loci linked to obesity: Practical considerations
    • Allison D. The use of discordant sibling pairs for finding genetic loci linked to obesity: practical considerations. Int J Obes Relat Metab Disord 1996;20:553-560.
    • (1996) Int J Obes Relat Metab Disord , vol.20 , pp. 553-560
    • Allison, D.1
  • 12
    • 0028837404 scopus 로고
    • Proximal myotonic myopathy: Clinical features of a multisystem disorder similar to myotonic dystrophy
    • Ricker K, Koch M, Lehmann-Horn F, et al. Proximal myotonic myopathy: clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
    • (1995) Arch Neurol , vol.52 , pp. 25-31
    • Ricker, K.1    Koch, M.2    Lehmann-Horn, F.3
  • 13
    • 0034308286 scopus 로고    scopus 로고
    • Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)
    • Kress W, Mueller-Myhsok B, Ricker K, et al. Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2). Neuromuscul Disord 2000;10:478-480.
    • (2000) Neuromuscul Disord , vol.10 , pp. 478-480
    • Kress, W.1    Mueller-Myhsok, B.2    Ricker, K.3
  • 15
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu Y-H, Pizzuti A, Fenwick RGJ, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.-H.1    Pizzuti, A.2    Fenwick, R.G.J.3
  • 16
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrphy
    • Buxton J, Shelbourne P, Davies J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrphy. Nature 1992;355:547-548.
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1    Shelbourne, P.2    Davies, J.3
  • 17
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley HG, Brook JD, Rundle SA, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-546.
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1    Brook, J.D.2    Rundle, S.A.3
  • 18
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrah ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrah, M.E.2    Harley, H.G.3
  • 19
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 1992;255:1253-1255.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 20
    • 0033771685 scopus 로고    scopus 로고
    • Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    • Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 2000;26:191-194.
    • (2000) Nat Genet , vol.26 , pp. 191-194
    • Matsuura, T.1    Yamagata, T.2    Burgess, D.L.3
  • 21
    • 0029921128 scopus 로고    scopus 로고
    • The expanding world of trinucleotide repeats
    • Warren ST. The expanding world of trinucleotide repeats. Science 1996;271:1374-1375.
    • (1996) Science , vol.271 , pp. 1374-1375
    • Warren, S.T.1
  • 22
    • 0032910562 scopus 로고    scopus 로고
    • Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
    • Hamshere MG, Harley H, Harper P, Brook JD, Brookfield JF. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J Med Genet 1999;36:59-61.
    • (1999) J Med Genet , vol.36 , pp. 59-61
    • Hamshere, M.G.1    Harley, H.2    Harper, P.3    Brook, J.D.4    Brookfield, J.F.5
  • 23
    • 0029919450 scopus 로고    scopus 로고
    • Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy
    • Timchenko LT, Miller JW, Timchenko NA, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996;24:4407-4414.
    • (1996) Nucleic Acids Res , vol.24 , pp. 4407-4414
    • Timchenko, L.T.1    Miller, J.W.2    Timchenko, N.A.3
  • 24
    • 0034783271 scopus 로고    scopus 로고
    • Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
    • Mankodi A, Urbinati CR, Yuan QP, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001;10:2165-2170.
    • (2001) Hum Mol Genet , vol.10 , pp. 2165-2170
    • Mankodi, A.1    Urbinati, C.R.2    Yuan, Q.P.3
  • 25
    • 0036537492 scopus 로고    scopus 로고
    • Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
    • Fardaei M, Rogers MT, Thorpe HM, et al. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 2002;11:805-814.
    • (2002) Hum Mol Genet , vol.11 , pp. 805-814
    • Fardaei, M.1    Rogers, M.T.2    Thorpe, H.M.3
  • 26
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001;29:40-47.
    • (2001) Nat Genet , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 27
    • 0001378839 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 is caused by a CCTG expansion in intron 1 of ZNF9
    • Ranum LPW, Liquori C, Moseley ML, et al. Myotonic dystrophy type 2 is caused by a CCTG expansion in intron 1 of ZNF9. Am J Hum Genet 2001;69:A211.
    • (2001) Am J Hum Genet , vol.69
    • Ranum, L.P.W.1    Liquori, C.2    Moseley, M.L.3
  • 28
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002;10:45-53.
    • (2002) Mol Cell , vol.10 , pp. 45-53
    • Charlet, B.N.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5    Cooper, T.A.6
  • 29
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats trigger aberrant splicing of C1C-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • Mankodi A, Takahashi MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of C1C-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10:35-44.
    • (2002) Mol Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3
  • 30
    • 0034935016 scopus 로고    scopus 로고
    • CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus
    • Filippova GN, Thienes CP, Penn BH, et al. CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 2001;28:335-343.
    • (2001) Nat Genet , vol.28 , pp. 335-343
    • Filippova, G.N.1    Thienes, C.P.2    Penn, B.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.