메뉴 건너뛰기




Volumn 38, Issue 5, 2008, Pages 1405-1411

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

Author keywords

Central nuclei; DM1; DM2; Muscle biopsy; Myotonic dystrophy

Indexed keywords

ADULT; ARTICLE; CELL NUCLEUS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CYTOPATHOLOGY; DIFFERENTIAL DIAGNOSIS; DISEASE MARKER; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MORPHOMETRICS; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPERTROPHY; MYOTONIC DYSTROPHY; MYOTONIC DYSTROPHY TYPE 2; PHENOTYPE; PREDICTIVE VALIDITY; PREVALENCE; PRIORITY JOURNAL;

EID: 55749099951     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21122     Document Type: Article
Times cited : (46)

References (19)
  • 1
    • 4344666094 scopus 로고    scopus 로고
    • A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
    • Bonifazi E, Vallo L, Giardina E, Botta A, Novelli G. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn Mol Pathol 2004;13:164-166.
    • (2004) Diagn Mol Pathol , vol.13 , pp. 164-166
    • Bonifazi, E.1    Vallo, L.2    Giardina, E.3    Botta, A.4    Novelli, G.5
  • 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, Buckler AJ, Church D, Aburatani H, 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    Buckler, A.J.4    Church, D.5    Aburatani, H.6
  • 3
    • 0014493654 scopus 로고
    • The histographic analysis of human muscle biopsies with regard to fiber types. 2. Diseases of the upper and lower motor neuron
    • Brooke MH, Engel WK. The histographic analysis of human muscle biopsies with regard to fiber types. 2. Diseases of the upper and lower motor neuron. Neurology 1969;19:378-393.
    • (1969) Neurology , vol.19 , pp. 378-393
    • Brooke, M.H.1    Engel, W.K.2
  • 5
    • 0345505665 scopus 로고    scopus 로고
    • Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy
    • Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Am J Pathol 2003;162:1001-1009.
    • (2003) Am J Pathol , vol.162 , pp. 1001-1009
    • Furling, D.1    Lam le, T.2    Agbulut, O.3    Butler-Browne, G.S.4    Morris, G.E.5
  • 6
    • 0015547811 scopus 로고
    • Data on the distribution of fibre types in thirty-six human muscles. An autopsy study
    • Johnson MA, Polgar J, Weightman D, Appleton D. Data on the distribution of fibre types in thirty-six human muscles. An autopsy study. J Neurol Sci 1973;18:111-129.
    • (1973) J Neurol Sci , vol.18 , pp. 111-129
    • Johnson, M.A.1    Polgar, J.2    Weightman, D.3    Appleton, D.4
  • 7
    • 26444444738 scopus 로고    scopus 로고
    • Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1
    • Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, et al. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 2005;14:2189-2200.
    • (2005) Hum Mol Genet , vol.14 , pp. 2189-2200
    • Kimura, T.1    Nakamori, M.2    Lueck, J.D.3    Pouliquin, P.4    Aoike, F.5    Fujimura, H.6
  • 11
    • 0005422025 scopus 로고
    • Myotonic disorders
    • Mastaglia FL, Walton J, editors, Edinburgh: Churchill Livingstone;
    • Nonaka I, Satoyoshi E. Myotonic disorders. In: Mastaglia FL, Walton J, editors. Skeletal muscle pathology. Edinburgh: Churchill Livingstone; 1992. p 319-342.
    • (1992) Skeletal muscle pathology , pp. 319-342
    • Nonaka, I.1    Satoyoshi, E.2
  • 12
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum LPW, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 2006;29:259-277.
    • (2006) Annu Rev Neurosci , vol.29 , pp. 259-277
    • Ranum, L.P.W.1    Cooper, T.A.2
  • 13
    • 0028837404 scopus 로고
    • Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
    • Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, 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.C.2    Lehmann-Horn, F.3    Pongratz, D.4    Speich, N.5    Reiners, K.6
  • 14
    • 34147135054 scopus 로고    scopus 로고
    • Risk prediction for clinical phenotype in myotonic dystrophy type 1: Data from 2,650 patients
    • Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, et al. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test 2007;11:84-90.
    • (2007) Genet Test , vol.11 , pp. 84-90
    • Salehi, L.B.1    Bonifazi, E.2    Stasio, E.D.3    Gennarelli, M.4    Botta, A.5    Vallo, L.6
  • 15
    • 12144286209 scopus 로고    scopus 로고
    • New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)
    • Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, et al. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscul Disord 2004;14:274-283.
    • (2004) Neuromuscul Disord , vol.14 , pp. 274-283
    • Sallinen, R.1    Vihola, A.2    Bachinski, L.L.3    Huoponen, K.4    Haapasalo, H.5    Hackman, P.6
  • 17
    • 0028334933 scopus 로고    scopus 로고
    • Thornton CA, Griggs RC, Moxley RT 3rd. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
    • Thornton CA, Griggs RC, Moxley RT 3rd. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
  • 18
    • 0027953827 scopus 로고
    • Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness
    • Tohgi H, Kawamorita A, Utsugisawa K, Yamagata M, Sano M. Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness. Muscle Nerve 1994;17:1037-1043.
    • (1994) Muscle Nerve , vol.17 , pp. 1037-1043
    • Tohgi, H.1    Kawamorita, A.2    Utsugisawa, K.3    Yamagata, M.4    Sano, M.5
  • 19
    • 10744219570 scopus 로고    scopus 로고
    • Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
    • Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003;60:1854-1857.
    • (2003) Neurology , vol.60 , pp. 1854-1857
    • Vihola, A.1    Bassez, G.2    Meola, G.3    Zhang, S.4    Haapasalo, H.5    Paetau, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.