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Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy 被引量:1

Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy
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摘要 To the Editor:The human four and a half LIM domain 1 (FHL1) gene,located on Xq26.3,encodes for a protein with only LIM domains.LIM domains,named after their initial discovery in the proteins Lin11,Isl-1,and Mec-3,are cysteine-rich protein motifs composed of two contiguous zinc finger domains separated by a two-amino acid residue hydrophobic linker. To the Editor:The human four and a half LIM domain 1 (FHL1) gene,located on Xq26.3,encodes for a protein with only LIM domains.LIM domains,named after their initial discovery in the proteins Lin11,Isl-1,and Mec-3,are cysteine-rich protein motifs composed of two contiguous zinc finger domains separated by a two-amino acid residue hydrophobic linker.
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2015年第16期2269-2270,共2页 中华医学杂志(英文版)
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  • 1Cowling BS,Cottle DL,Wilding BR,D'Arcy CE,Mitchell CA,McGrath MJ.Four and a half LIM protein 1 gene mutations cause four distinct human myopathies:A comprehensive review of the clinical,histological and pathological features.Neuromuscul Disord 2011;21:237-51.
  • 2Friedrich FW,Wilding BR,Reischmann S,Crocini C,Lang P,Charron P,et al.Evidence for FHL 1 as a novel disease gene for isolated hypertrophic cardiomyopathy.Hum Mol Genet 2012;21:3237-54.
  • 3Malfatti E,Olivé M,Taratuto AL,Richard P,Brochier G,Bitoun M,et al.Skeletal muscle biopsy analysis in reducing body myopathy and other FHL 1-related disorders.J Neuropathol Exp Neurol 2013;72:833-45.
  • 4Knoblauch H,Geier C,Adams S,Budde B,Rudolph A,Zacharias U,et al.Contractures and hypertrophic cardiomyopathy in a novel FHL 1 mutation.Ann Neurol 2010;67:136-40.
  • 5Sheikh F,Raskin A,Chu PH,Lange S,Domenighetti AA,Zheng M,et al.An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice.J Clin Invest 2008;118:3870-80.

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