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Volumn 11, Issue 7, 2009, Pages 552-555

Erratum : Technical standards and guidelines for myotonic dystrophy type 1 testing (Genet Med (2009)) DOI: 10.1097/GIM.0b013e3181abce0f);Technical standards and guidelines for myotonic dystrophy type 1 testing

Author keywords

CTG repeats; Genetic testing; Genotype; Myotonic dystrophy type 1; Phenotype

Indexed keywords

MYOTONIC DYSTROPHY PROTEIN KINASE; PROTEIN KINASE;

EID: 68749114098     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.176     Document Type: Erratum
Times cited : (29)

References (17)
  • 1
    • 0003740896 scopus 로고
    • Harper PS, editor, 2nd ed. Philadelphia: W.B. Saunders
    • Harper PS, editor. Myotonic dystrophy, 2nd ed. Philadelphia: W.B. Saunders, 1989.
    • (1989) Myotonic dystrophy
  • 2
    • 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, McCurrach 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    McCurrach, M.E.2    Harley, H.G.3
  • 3
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG Jr, King J, 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 Jr, R.G.3    King, J.4
  • 4
    • 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
  • 5
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
    • Redman JB, Fenwick RG Jr, Fu YH, Pizzuti A, Caskey CT. Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA 1993;269:1960-1965.
    • (1993) JAMA , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick Jr, R.G.2    Fu, Y.H.3    Pizzuti, A.4    Caskey, C.T.5
  • 6
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C, MacKenzie AE, Mettler G, Barceló J, Korneluk RG. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1992;1:192-195.
    • (1992) Nat Genet , vol.1 , pp. 192-195
    • Tsilfidis, C.1    MacKenzie, A.E.2    Mettler, G.3    Barceló, J.4    Korneluk, R.G.5
  • 7
    • 2342461060 scopus 로고    scopus 로고
    • Myotonic dystrophy: RNA pathogenesis comes into focus
    • Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 2004;74:793-804.
    • (2004) Am J Hum Genet , vol.74 , pp. 793-804
    • Ranum, L.P.1    Day, J.W.2
  • 8
    • 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
    • BN, C.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5    Cooper, T.A.6
  • 9
    • 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
  • 10
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, 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.L.1    Ricker, K.2    Moseley, M.L.3
  • 11
    • 0027957470 scopus 로고
    • Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
    • Thorton CA, Johnson K, Moxley RT III. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994;35:104-107.
    • (1994) Ann Neurol , vol.35 , pp. 104-107
    • Thorton, C.A.1    Johnson, K.2    Moxley III, R.T.3
  • 13
    • 0001125916 scopus 로고    scopus 로고
    • New nomenclature and DNA testing guidelines for myotonic dystrophy type I (DM1)
    • International Myotonic Dystrophy Consortium IDMC
    • International Myotonic Dystrophy Consortium (IDMC). New nomenclature and DNA testing guidelines for myotonic dystrophy type I (DM1). Neurology 2000;54:1218-1221.
    • (2000) Neurology , vol.54 , pp. 1218-1221
  • 14
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    • Buxton J, Shelbourne P, Davie J, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355: 547-548.
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1    Shelbourne, P.2    Davie, J.3
  • 15
    • 0027510190 scopus 로고
    • Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker
    • Shelbourne P, Davies J, Buxton J, Anvret M, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med 1993;328:471-475.
    • (1993) N Engl J Med , vol.328 , pp. 471-475
    • Shelbourne, P.1    Davies, J.2    Buxton, J.3    Anvret, M.4
  • 16
    • 0029964334 scopus 로고    scopus 로고
    • Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques
    • Petronis A, Heng HH, Tatuch Y, et al. Direct detection of expanded trinucleotide repeats using PCR and DNA hybridization techniques. Am J Med Genet 1996;67:85-91.
    • (1996) Am J Med Genet , vol.67 , pp. 85-91
    • Petronis, A.1    Heng, H.H.2    Tatuch, Y.3
  • 17
    • 0028985185 scopus 로고
    • A molecular protocol for diagnosing myotonic dystrophy
    • Guida M, Marger RS, Papp AC, et al. A molecular protocol for diagnosing myotonic dystrophy. Clin Chem 1995;41:69-72.
    • (1995) Clin Chem , vol.41 , pp. 69-72
    • Guida, M.1    Marger, R.S.2    Papp, A.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.