메뉴 건너뛰기




Volumn 33, Issue 2, 1996, Pages 97-102

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families

Author keywords

Autosomal recessive limb girdle muscular dystrophy; Genetic heterogeneity; Muscular dystrophy; Severe childhood autosomal

Indexed keywords

ADHALIN;

EID: 19144370503     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.2.97     Document Type: Article
Times cited : (41)

References (17)
  • 1
    • 0003352842 scopus 로고
    • Limb girdle syndromes
    • Engel AG, Banker BQ, eds. New York: McGraw-Hill
    • Shields RW. Limb girdle syndromes. In: Engel AG, Banker BQ, eds. Myology. Vol II. New York: McGraw-Hill, 1986.
    • (1986) Myology , vol.2
    • Shields, R.W.1
  • 2
    • 0020606260 scopus 로고
    • Severe childhood muscular dystrophy affecting both sexes is frequent in Tunisia
    • Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes is frequent in Tunisia. Muscle Nerve 1983;6:469-80.
    • (1983) Muscle Nerve , vol.6 , pp. 469-480
    • Ben Hamida, M.1    Fardeau, M.2    Attia, N.3
  • 3
    • 0024307961 scopus 로고
    • Estimate of the proportion of the Duchenne muscular dystrophy with autosomal recessive inheritance
    • Zatz M, Passos-Bueno MR, Rapaport D. Estimate of the proportion of the Duchenne muscular dystrophy with autosomal recessive inheritance. Am J Med Genet 1989; 32:407-10.
    • (1989) Am J Med Genet , vol.32 , pp. 407-410
    • Zatz, M.1    Passos-Bueno, M.R.2    Rapaport, D.3
  • 4
    • 0025088663 scopus 로고
    • Dystrophin immunostaining in muscle from patients with different types of muscular dystrophy: A Brazilian study
    • Vainzof M, Pavanello RCM, Pavanello-Filho I, et al. Dystrophin immunostaining in muscle from patients with different types of muscular dystrophy: a Brazilian study. J Neurol Sci 1990;98:221-33.
    • (1990) J Neurol Sci , vol.98 , pp. 221-233
    • Vainzof, M.1    Pavanello, R.C.M.2    Pavanello-Filho, I.3
  • 6
    • 0024538824 scopus 로고
    • An autosomal high molecular weight transcript in skeletal muscle with homology to dystrophin
    • Love D, Hill DF, Dickson G, Spurr NK, et al. An autosomal high molecular weight transcript in skeletal muscle with homology to dystrophin. Nature 1989;339:55-8.
    • (1989) Nature , vol.339 , pp. 55-58
    • Love, D.1    Hill, D.F.2    Dickson, G.3    Spurr, N.K.4
  • 7
    • 0026621049 scopus 로고
    • Primary structure of dystrophin-related protein
    • Tinsley JM, Blake DJ, Roche U, et al. Primary structure of dystrophin-related protein. Nature 1992;360:591-3.
    • (1992) Nature , vol.360 , pp. 591-593
    • Tinsley, J.M.1    Blake, D.J.2    Roche, U.3
  • 8
    • 0026010967 scopus 로고
    • Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence
    • Passos-Bueno MR, Terwilliger J, Ott J, et al. Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. Am J Med Genet 1990;38:140-6.
    • (1990) Am J Med Genet , vol.38 , pp. 140-146
    • Passos-Bueno, M.R.1    Terwilliger, J.2    Ott, J.3
  • 9
    • 0025932274 scopus 로고
    • Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle
    • Khurana TS, Watkins SC, Chafey P, et al. Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromusc Disord 1991; 1:185-94.
    • (1991) Neuromusc Disord , vol.1 , pp. 185-194
    • Khurana, T.S.1    Watkins, S.C.2    Chafey, P.3
  • 10
    • 0026757138 scopus 로고
    • Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
    • Matsumara K, Tomé FMS, Collin H, et al. Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992;359:320-2.
    • (1992) Nature , vol.359 , pp. 320-322
    • Matsumara, K.1    Tomé, F.M.S.2    Collin, H.3
  • 11
    • 0026027805 scopus 로고
    • A gene for limbgirdle muscular dystrophy maps to chromosome 15 by linkage analysis
    • Beckmann JS, Richard I, Hillaire D, et al. A gene for limbgirdle muscular dystrophy maps to chromosome 15 by linkage analysis. C R Acad Sci Paris 1991;312:141-8.
    • (1991) C R Acad Sci Paris , vol.312 , pp. 141-148
    • Beckmann, J.S.1    Richard, I.2    Hillaire, D.3
  • 12
    • 0028905205 scopus 로고
    • A novel mechanism leading to muscular dystrophy: Mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Broux O, Allamand V, et al. A novel mechanism leading to muscular dystrophy: mutations in calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81:27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3
  • 13
    • 0029334512 scopus 로고
    • Report of the 30th and 31st ENMC international workshop: The limb-girdle muscular dystrophies and proposal for a new nomenclature
    • Bushby K, Beckmann J. Report of the 30th and 31st ENMC international workshop: the limb-girdle muscular dystrophies and proposal for a new nomenclature. Neuromusc Disord 1995;5:337-43.
    • (1995) Neuromusc Disord , vol.5 , pp. 337-343
    • Bushby, K.1    Beckmann, J.2
  • 14
    • 0026697815 scopus 로고
    • Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15
    • Young K, Foroud T, Williams P, et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics 1992;13:1370-1.
    • (1992) Genomics , vol.13 , pp. 1370-1371
    • Young, K.1    Foroud, T.2    Williams, P.3
  • 15
    • 0027215588 scopus 로고
    • Evidence of genetic heterogeneity for the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families
    • Passos-Bueno MR, Richard I, Vainzof M, et al. Evidence of genetic heterogeneity for the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. J Med Genet 1993;30:385-7.
    • (1993) J Med Genet , vol.30 , pp. 385-387
    • Passos-Bueno, M.R.1    Richard, I.2    Vainzof, M.3
  • 16
    • 0028326542 scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
    • Bashir R, Strachan T, Keers S, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-7.
    • (1994) Hum Mol Genet , vol.3 , pp. 455-457
    • Bashir, R.1    Strachan, T.2    Keers, S.3
  • 17
    • 0029057637 scopus 로고
    • Confirmation of the 2p locus for mild autosomal recessive limb-girdle muscular dystrophy in three families allows refinement of the candidate region
    • Passos-Bueno MR, Moreira ES, Vasquez L, et al. Confirmation of the 2p locus for mild autosomal recessive limb-girdle muscular dystrophy in three families allows refinement of the candidate region. Genomics 1995;27: 192-5.
    • (1995) Genomics , vol.27 , pp. 192-195
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Vasquez, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.