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Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.

Nathan R Tucker | Micheal A McLellan | Dongjian Hu | Jiangchuan Ye | Victoria A Parsons | Robert W Mills | Sebastian Clauss | Elena Dolmatova | Marisa A Shea | David J Milan | Nandita S Scott | Mark Lindsay | Steven A Lubitz | Ibrahim J Domian | James R Stone | Honghuang Lin | Patrick T Ellinor
Circulation. Cardiovascular genetics | 2017

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes.

Pubmed ID: 29212899

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Associated grants

  • Agency: NHLBI NIH HHS, United States
    Id: K24 HL105780
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL130391
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL092577
  • Agency: NHLBI NIH HHS, United States
    Id: R01 HL128914
  • Agency: NHLBI NIH HHS, United States
    Id: T32 HL007208
  • Agency: NHLBI NIH HHS, United States
    Id: K23 HL114724

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