A mutation update for the FLNC gene in myopathies and cardiomyopathies

Job A. J. Verdonschot, Els K. Vanhoutte, Godelieve R. F. Claes, Apollonia T. J. M. Helderman van den Enden, Janneke G. J. Hoeijmakers, Debby M. E. I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. van Craenenbroeck, Bart L. Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. Waning, Annette F. Baas, Dennis Dooijes, Folkert W. AsselbergsDaniela Q. C. M. Barge-Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stephane R. B. Heymans, Ingrid P. C. Krapels, Han G. Brunner*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1091-1111
Number of pages21
JournalHuman Mutation
Volume41
Issue number6
DOIs
Publication statusPublished - Jun 2020

Keywords

  • cardiomyopathy
  • filamin
  • FLNC
  • genotype-phenotype correlation
  • myopathy
  • ACTIN-BINDING DOMAIN
  • FILAMIN-C
  • MYOFIBRILLAR MYOPATHY
  • HYPERTROPHIC CARDIOMYOPATHY
  • TRUNCATING VARIANTS
  • PROTEIN AGGREGATION
  • MUSCULAR-DYSTROPHY
  • HEART-FAILURE
  • CLASSIFICATION
  • IDENTIFICATION

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