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Volumn 3, Issue 2, 1996, Pages 110-121

Nondystrophinopathic muscular dystrophies including myotonic dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

ADHALIN;

EID: 0029884790     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1071-9091(96)80040-4     Document Type: Article
Times cited : (3)

References (45)
  • 1
    • 0013936856 scopus 로고
    • Unusual type of benign X-linked muscular dystrophy
    • Emery AEH Dreifuss FE Unusual type of benign X-linked muscular dystrophy J Neurol Neurosurg Psychiatry 29 1966 338 342
    • (1966) J Neurol Neurosurg Psychiatry , vol.29 , pp. 338-342
    • Emery, AEH1    Dreifuss, FE2
  • 2
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Boine S Maestrini E Rivella S Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy Nat Genet 8 1994 323 327
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Boine, S1    Maestrini, E2    Rivella, S3
  • 3
    • 0018353543 scopus 로고
    • Emery-Dreifuss muscular dystrophy
    • Rowland LP Fetell M Olarte M Emery-Dreifuss muscular dystrophy Ann Neurol 5 1979 111 117
    • (1979) Ann Neurol , vol.5 , pp. 111-117
    • Rowland, LP1    Fetell, M2    Olarte, M3
  • 4
    • 0024419522 scopus 로고
    • Emery-Dreifuss muscular dystrophy
    • Emery AEH Emery-Dreifuss muscular dystrophy J Med Genet 26 1989 637 641
    • (1989) J Med Genet , vol.26 , pp. 637-641
    • Emery, AEH1
  • 5
    • 85114545870 scopus 로고
    • Rigid spine syndrome
    • Dubowitz V Rigid spine syndrome Dubowitz V Muscle Biopsy. A Practical Approach 1985 Bailliere-Tindall London, England 617 621
    • (1985) , pp. 617-621
    • Dubowitz, V1
  • 6
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN Nattrass FJ On the classification, natural history and treatment of the myopathies Brain 77 1954 169 231
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, JN1    Nattrass, FJ2
  • 7
    • 0028038980 scopus 로고
    • Mapping of a chromosome is region involved in limb girdle muscular dystrophy
    • Fougerousse F Broux O Richard I Mapping of a chromosome is region involved in limb girdle muscular dystrophy Hum Mol Genet 3 1994 285 293
    • (1994) Hum Mol Genet , vol.3 , pp. 285-293
    • Fougerousse, F1    Broux, O2    Richard, I3
  • 8
    • 0028960871 scopus 로고
    • A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
    • Chiannilkulchai N Pasturaud P Richard I A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene Hum Mol Genet 4 1995 717 725
    • (1995) Hum Mol Genet , vol.4 , pp. 717-725
    • Chiannilkulchai, N1    Pasturaud, P2    Richard, I3
  • 9
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I Broux O Allamand V Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A Cell 81 1995 27 40
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I1    Broux, O2    Allamand, V3
  • 10
    • 0028326542 scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2
    • Bashir R Strachan T Keers S A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2 Hum Mol Genet 3 1994 455 457
    • (1994) Hum Mol Genet , vol.3 , pp. 455-457
    • Bashir, R1    Strachan, T2    Keers, S3
  • 11
    • 0028799618 scopus 로고
    • Limbgirdle muscular dystrophy: clinical and pathologic reevaluation
    • Yamanouchi Y Arikawa E Arahata K Limbgirdle muscular dystrophy: clinical and pathologic reevaluation J Neurol Sci 129 1995 15 20
    • (1995) J Neurol Sci , vol.129 , pp. 15-20
    • Yamanouchi, Y1    Arikawa, E2    Arahata, K3
  • 12
    • 0027980295 scopus 로고
    • Increasing complexity of the dystrophin-associated protein complex
    • Tinsley JM Blake DJ Zuellig RA Increasing complexity of the dystrophin-associated protein complex Proc Natl Acad Sci USA 91 1994 8307 8313
    • (1994) , pp. 8307-8313
    • Tinsley, JM1    Blake, DJ2    Zuellig, RA3
  • 13
    • 0029089582 scopus 로고
    • Dystrophin-associated proteins in muscular dystrophy
    • Ozawa E Yoshida M Hagiwara Y Dystrophin-associated proteins in muscular dystrophy Hum Mol Genet 4 1995 1711 1716
    • (1995) Hum Mol Genet , vol.4 , pp. 1711-1716
    • Ozawa, E1    Yoshida, M2    Hagiwara, Y3
  • 14
    • 0026757138 scopus 로고
    • Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumura K Tomé FMS Collin H Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy Nature 359 1992 320 322
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumura, K1    Tomé, FMS2    Collin, H3
  • 15
    • 0020606260 scopus 로고
    • Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
    • Ben Hamida M Fardeau M Attia N Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia Muscle Nerve 6 1983 469 480
    • (1983) Muscle Nerve , vol.6 , pp. 469-480
    • Ben Hamida, M1    Fardeau, M2    Attia, N3
  • 16
    • 0028146869 scopus 로고
    • Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
    • Roberds SL Leturcq F Allamand V Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy Cell 78 1994 625 633
    • (1994) Cell , vol.78 , pp. 625-633
    • Roberds, SL1    Leturcq, F2    Allamand, V3
  • 17
    • 0027171297 scopus 로고
    • Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
    • Azibi K Bachner L Beckmann JS Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12 Hum Mol Genet 2 1993 1423 1428
    • (1993) Hum Mol Genet , vol.2 , pp. 1423-1428
    • Azibi, K1    Bachner, L2    Beckmann, JS3
  • 18
  • 19
    • 0027364850 scopus 로고
    • Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33
    • Toda T Segawa M Nomura Y Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 Nat Genet 5 1993 283 286
    • (1993) Nat Genet , vol.5 , pp. 283-286
    • Toda, T1    Segawa, M2    Nomura, Y3
  • 20
    • 0019471880 scopus 로고
    • Congenital progressive muscular dystrophy of the Fukuyama type: Clinical, genetic and pathological considerations
    • Fukuyama Y Osawa M Suzuki H Congenital progressive muscular dystrophy of the Fukuyama type: Clinical, genetic and pathological considerations Brain Dev 3 1981 1 29
    • (1981) Brain Dev , vol.3 , pp. 1-29
    • Fukuyama, Y1    Osawa, M2    Suzuki, H3
  • 21
    • 0001874191 scopus 로고
    • Congenital muscular dystrophy
    • Nonaka I Chou SM Congenital muscular dystrophy Vinken PJ Bruyn GW Handbook of Clinical Neurology vol 41 1979 North-Holland Pub Amsterdam, The Netherlands 27 50
    • (1979) , pp. 27-50
    • Nonaka, I1    Chou, SM2
  • 22
    • 0020085750 scopus 로고
    • Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement
    • Nonaka I Takagi A Sugita H Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement Muscle Nerve 5 1982 102 106
    • (1982) Muscle Nerve , vol.5 , pp. 102-106
    • Nonaka, I1    Takagi, A2    Sugita, H3
  • 23
    • 0027360897 scopus 로고
    • Abnormal localization of laminin subunits in muscular dystrophies
    • Hayashi YK Engvall E Arikawa-Hirasawa E Abnormal localization of laminin subunits in muscular dystrophies J Neurol Sci 119 1993 53 64
    • (1993) J Neurol Sci , vol.119 , pp. 53-64
    • Hayashi, YK1    Engvall, E2    Arikawa-Hirasawa, E3
  • 24
    • 0028232215 scopus 로고
    • Congenital muscular dystrophy with merosin deficiency
    • Tomé FMS Evangelista T Leclerc A Congenital muscular dystrophy with merosin deficiency C R Acad Sci Paris 317 1994 351 357
    • (1994) C R Acad Sci Paris , vol.317 , pp. 351-357
    • Tomé, FMS1    Evangelista, T2    Leclerc, A3
  • 25
    • 0029061267 scopus 로고
    • Clinical phenotype in congenital muscular dystrophy: correlation with expression on merosin in skeletal muscle
    • Philpot J Sewry C Pennock J Clinical phenotype in congenital muscular dystrophy: correlation with expression on merosin in skeletal muscle Neuromuscul Disord 5 1995 301 305
    • (1995) Neuromuscul Disord , vol.5 , pp. 301-305
    • Philpot, J1    Sewry, C2    Pennock, J3
  • 26
    • 0029007799 scopus 로고
    • Expression of laminin subunits in congenital muscular dystrophy
    • Sewry C Philpot J Mahony D Expression of laminin subunits in congenital muscular dystrophy Neuromuscul Disord 5 1995 307 316
    • (1995) Neuromuscul Disord , vol.5 , pp. 307-316
    • Sewry, C1    Philpot, J2    Mahony, D3
  • 27
    • 0029877803 scopus 로고    scopus 로고
    • Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (occidental) merosin-positive form
    • Kobayashi O Hayashi Y Arahata K Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (occidental) merosin-positive form Neurology 46 1996 815 818
    • (1996) Neurology , vol.46 , pp. 815-818
    • Kobayashi, O1    Hayashi, Y2    Arahata, K3
  • 28
    • 0029921917 scopus 로고    scopus 로고
    • Basement membrane abnormality in merosin-negative congenital muscular dystrophy
    • Osari S Kobayashi O Yamashita Y Basement membrane abnormality in merosin-negative congenital muscular dystrophy Acta Neuropathol 91 1996 332 336
    • (1996) Acta Neuropathol , vol.91 , pp. 332-336
    • Osari, S1    Kobayashi, O2    Yamashita, Y3
  • 29
    • 0028094441 scopus 로고
    • Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
    • Hillaire D Leclerc A Faure S Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping Hum Mol Genet 3 1994 1657 1661
    • (1994) Hum Mol Genet , vol.3 , pp. 1657-1661
    • Hillaire, D1    Leclerc, A2    Faure, S3
  • 30
    • 0022634885 scopus 로고
    • Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy
    • Miyoshi K Kawai H Iwasa M Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy Brain 109 1986 31 54
    • (1986) Brain , vol.109 , pp. 31-54
    • Miyoshi, K1    Kawai, H2    Iwasa, M3
  • 31
    • 0028951204 scopus 로고
    • Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12–14
    • Bejaoui K Hirabayashi K Hentati F Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12–14 Neurology 45 1995 768 772
    • (1995) Neurology , vol.45 , pp. 768-772
    • Bejaoui, K1    Hirabayashi, K2    Hentati, F3
  • 32
    • 0021924034 scopus 로고
    • Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation
    • Nonaka I Sunohara N Satoyoshi E Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation Ann Neurol 17 1985 51 59
    • (1985) Ann Neurol , vol.17 , pp. 51-59
    • Nonaka, I1    Sunohara, N2    Satoyoshi, E3
  • 33
    • 0028017312 scopus 로고
    • Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers
    • Yamanouchi Y Ozawa E Nonaka I Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers J Neurol Sci 126 1994 70 76
    • (1994) J Neurol Sci , vol.126 , pp. 70-76
    • Yamanouchi, Y1    Ozawa, E2    Nonaka, I3
  • 34
    • 0025160101 scopus 로고
    • Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
    • Wijmenga C Frants RR Brouwer OF Location of facioscapulohumeral muscular dystrophy gene on chromosome 4 Lancet 336 1990 651 653
    • (1990) Lancet , vol.336 , pp. 651-653
    • Wijmenga, C1    Frants, RR2    Brouwer, OF3
  • 35
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangements associated with facioscapulo-humeral muscular dystrophy
    • Wijmenga C Hewitt JE Sandkuijl LA Chromosome 4q DNA rearrangements associated with facioscapulo-humeral muscular dystrophy Nat Genet 2 1992 26 30
    • (1992) Nat Genet , vol.2 , pp. 26-30
    • Wijmenga, C1    Hewitt, JE2    Sandkuijl, LA3
  • 36
    • 0001283510 scopus 로고
    • Facioscapulohumeral disease and the scapuloperoneal syndrome
    • Munsat TL Facioscapulohumeral disease and the scapuloperoneal syndrome Engel AG Franzini-Armstrong C Myology vol 2 1994 McGraw-Hill New York, NY 1220 1232
    • (1994) , pp. 1220-1232
    • Munsat, TL1
  • 37
    • 0028961960 scopus 로고
    • Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunohistochemical and genetic analysis
    • (suppl) Arahata K Ishihara T Fukunaga H Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunohistochemical and genetic analysis Muscle Nerve 2 1995 S56 S66
    • (1995) Muscle Nerve , vol.2 , pp. S56-S66
    • Arahata, K1    Ishihara, T2    Fukunaga, H3
  • 38
    • 0026601924 scopus 로고
    • Expansion of an unstable region and phenotypic variation in myotonic dystrophy
    • Harley HG Brook JB Rundle SA Expansion of an unstable region and phenotypic variation in myotonic dystrophy Nature 355 1992 545 546
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, HG1    Brook, JB2    Rundle, SA3
  • 39
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic dystrophy
    • Fu Y-H Pizzuti A Fenwick RG An unstable triplet repeat in a gene related to myotonic dystrophy Science 255 1992 1256 1258
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y-H1    Pizzuti, A2    Fenwick, RG3
  • 40
    • 0026523591 scopus 로고
    • Unstable DNA sequence in myotonic dystrophy
    • Harley HG Rundle SA Reardson W Unstable DNA sequence in myotonic dystrophy Lancet 339 1992 1125 1128
    • (1992) Lancet , vol.339 , pp. 1125-1128
    • Harley, HG1    Rundle, SA2    Reardson, W3
  • 41
    • 0005422025 scopus 로고
    • Myotonic disorders
    • Nonaka I Satoyoshi E Myotonic disorders Mastaglia FL Lord Walton of Detchant Skeletal Muscle Pathology 1992 Churchill Livingstone Edinburgh, Scotland 319 342
    • (1992) , pp. 319-342
    • Nonaka, I1    Satoyoshi, E2
  • 42
    • 0026879229 scopus 로고
    • Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
    • Tsilfidis C MacKenzie AE Mettler G Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy Nat Genet 1 1992 192 195
    • (1992) Nat Genet , vol.1 , pp. 192-195
    • Tsilfidis, C1    MacKenzie, AE2    Mettler, G3
  • 43
    • 0028971219 scopus 로고
    • β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
    • Bönnemann CG Modi R Noguchi S β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex Nat Genet 11 1995 266 272
    • (1995) Nat Genet , vol.11 , pp. 266-272
    • Bönnemann, CG1    Modi, R2    Noguchi, S3
  • 44
    • 0028971221 scopus 로고
    • β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12
    • Lim LE Duclos F Broux O β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12 Nat Genet 11 1995 257 265
    • (1995) Nat Genet , vol.11 , pp. 257-265
    • Lim, LE1    Duclos, F2    Broux, O3
  • 45
    • 0028883973 scopus 로고
    • Mutations in the dystrophin associated protein-γ-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S McNally EM Othmane KB Mutations in the dystrophin associated protein-γ-sarcoglycan in chromosome 13 muscular dystrophy Science 270 1995 819 822
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S1    McNally, EM2    Othmane, KB3


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