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Volumn 61, Issue 4, 2003, Pages 562-564

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 3;

EID: 0041429580     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000076486.57572.5C     Document Type: Article
Times cited : (26)

References (10)
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  • 2
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  • 3
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    • Caveolae and caveolin-3 in muscular dystrophy
    • Galbiati F, Razani B, Lisanti MP. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001;7:435-441.
    • (2001) Trends Mol Med , vol.7 , pp. 435-441
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  • 4
    • 0031920515 scopus 로고    scopus 로고
    • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
    • Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998;18:365-368.
    • (1998) Nat Genet , vol.18 , pp. 365-368
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  • 5
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    • Herrmann R, Straub V, Blank M, et al. Dissociation of the dystroglycan complex in caveolin-3 deficient limb girdle muscular dystrophy. Hum Mol Genet 2000;9:2335-2340.
    • (2000) Hum Mol Genet , vol.9 , pp. 2335-2340
    • Herrmann, R.1    Straub, V.2    Blank, M.3
  • 6
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    • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
    • Betz RC, Schoser BG, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001;28:218-219.
    • (2001) Nat Genet , vol.28 , pp. 218-219
    • Betz, R.C.1    Schoser, B.G.2    Kasper, D.3
  • 7
    • 0035956556 scopus 로고    scopus 로고
    • A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation
    • Vorgerd M, Ricker K, Ziemssen F, et al. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology 2002;57:2273-2277.
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  • 8
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    • Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
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    • (2000) Neurology , vol.54 , pp. 1371-1376
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  • 9
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    • Mutation in the caveolin-3 gene causes a peculiar from of distal myopathy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.