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Volumn 67, Issue 1, 2010, Pages 136-140

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; LIM KINASE;

EID: 77649302442     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21839     Document Type: Article
Times cited : (56)

References (10)
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    • Schessl, J.1    Zou, Y.2    McGrath, M.J.3
  • 2
    • 38749121773 scopus 로고    scopus 로고
    • An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
    • Windpassinger C, Schoser B, Straub V, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008;82:88-99.
    • (2008) Am J Hum Genet , vol.82 , pp. 88-99
    • Windpassinger, C.1    Schoser, B.2    Straub, V.3
  • 3
    • 38749136299 scopus 로고    scopus 로고
    • X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1
    • Quinzii CM, Vu TH, Min KC, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet 2008;82: 208-213.
    • (2008) Am J Hum Genet , vol.82 , pp. 208-213
    • Quinzii, C.M.1    Vu, T.H.2    Min, K.C.3
  • 4
    • 58249091742 scopus 로고    scopus 로고
    • Identification of FHL1 as a regulator of skeletal muscle mass: Implications for human myopathy
    • Cowling BS, McGrath MJ, Nguyen MA, et al. Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. J Cell Biol 2008;183:1033-1048.
    • (2008) J Cell Biol , vol.183 , pp. 1033-1048
    • Cowling, B.S.1    McGrath, M.J.2    Nguyen, M.A.3
  • 5
    • 0023949032 scopus 로고
    • Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis
    • Voit T, Krogmann O, Lenard HG, et al. Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 1988;19:62-71.
    • (1988) Neuropediatrics , vol.19 , pp. 62-71
    • Voit, T.1    Krogmann, O.2    Lenard, H.G.3
  • 6
  • 7
    • 50849138457 scopus 로고    scopus 로고
    • Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy
    • Geier C, Gehmlich K, Ehler E, et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet 2008;17:2753-2765.
    • (2008) Hum Mol Genet , vol.17 , pp. 2753-2765
    • Geier, C.1    Gehmlich, K.2    Ehler, E.3
  • 8
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-288.
    • (1999) Nat Genet , vol.21 , pp. 285-288
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  • 9
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    • Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway
    • Ding L, Wang Z, Yan J, et al. Human four-and-a-half LIM family members suppress tumor cell growth through a TGF-beta-like signaling pathway. J Clin Invest 2009;119:349-361.
    • (2009) J Clin Invest , vol.119 , pp. 349-361
    • Ding, L.1    Wang, Z.2    Yan, J.3
  • 10
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    • Muscle and nerve pathology in Dunnigan familial partial lipodystrophy
    • Spuler S, Kalbhenn T, Zabojszcza J, et al. Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. Neurology 2007;68:677-683.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.