메뉴 건너뛰기




Volumn 68, Issue 24, 2007, Pages 2125-2128

Limb-girdle muscular dystrophy in the Netherlands: Gene defect identified in half the families

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CAVEOLIN 3; DYSFERLIN; FUKUTIN RELATED PROTEIN; SARCOGLYCAN;

EID: 34250360577     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000264853.40735.3b     Document Type: Article
Times cited : (55)

References (10)
  • 1
    • 10344253781 scopus 로고    scopus 로고
    • The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands
    • Van der Kooi AJ, Barth PG, Busch HFM, et al. The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands. Brain 1996;119:1471-1480.
    • (1996) Brain , vol.119 , pp. 1471-1480
    • Van der Kooi, A.J.1    Barth, P.G.2    Busch, H.F.M.3
  • 2
    • 0033904793 scopus 로고    scopus 로고
    • Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
    • Ginjaar HB, van der Kooi AJ, Ceelie H, et al. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. J Neurol 2000;247:524-529.
    • (2000) J Neurol , vol.247 , pp. 524-529
    • Ginjaar, H.B.1    van der Kooi, A.J.2    Ceelie, H.3
  • 3
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A, Bonne G, van der Kooi, AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9:1453-1459.
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3
  • 4
    • 0013164798 scopus 로고    scopus 로고
    • Multiplex Western blot analysis of the muscular dystrophy proteins
    • Bushby KMD, Anderson LVB, eds, Totowa: Humana Press
    • Anderson LVB. Multiplex Western blot analysis of the muscular dystrophy proteins. In: Bushby KMD, Anderson LVB, eds. Muscular dystrophy: methods and protocols. Totowa: Humana Press, 2001:369-386.
    • (2001) Muscular dystrophy: Methods and protocols , pp. 369-386
    • Anderson, L.V.B.1
  • 5
    • 0035853009 scopus 로고    scopus 로고
    • Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
    • Fanin M, Pegoraro E, Matsuda-Asada C, Brown Jr. RH, Angelini C. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001;56:660-665.
    • (2001) Neurology , vol.56 , pp. 660-665
    • Fanin, M.1    Pegoraro, E.2    Matsuda-Asada, C.3    Brown Jr., R.H.4    Angelini, C.5
  • 6
    • 19144370503 scopus 로고    scopus 로고
    • Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families
    • Passos-Bueno MR, Moreira ES, Maire SK, et al. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J Med Genet 1996;33:97-102.
    • (1996) J Med Genet , vol.33 , pp. 97-102
    • Passos-Bueno, M.R.1    Moreira, E.S.2    Maire, S.K.3
  • 7
    • 0033559299 scopus 로고    scopus 로고
    • Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
    • Vainzof M, Passos-Bueno MR, Pavanello RC, Marie SK, Oliveira AS, Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999;164:44-49.
    • (1999) J Neurol Sci , vol.164 , pp. 44-49
    • Vainzof, M.1    Passos-Bueno, M.R.2    Pavanello, R.C.3    Marie, S.K.4    Oliveira, A.S.5    Zatz, M.6
  • 8
    • 0037461292 scopus 로고    scopus 로고
    • The phenotype of limb-girdle muscular dystrophy type 2I
    • Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003;60:1246-1251.
    • (2003) Neurology , vol.60 , pp. 1246-1251
    • Poppe, M.1    Cree, L.2    Bourke, J.3
  • 9
    • 0037461326 scopus 로고    scopus 로고
    • Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
    • Driss A, Noguchi S, Amouri R, et al. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology 2003;60:1341-1344.
    • (2003) Neurology , vol.60 , pp. 1341-1344
    • Driss, A.1    Noguchi, S.2    Amouri, R.3
  • 10
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin alpha2 Deficiency and Abnormal Glycosylation of alpha-dystroglycan
    • Brockington M, Blake DJ, Prandini P, et al. Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin alpha2 Deficiency and Abnormal Glycosylation of alpha-dystroglycan. Am J Hum Genet 2001;69:1198-1209.
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.