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A mutation update for the FLNC gene in myopathies and cardiomyopathies
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high‐throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardio...
Autores principales: | Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., de Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., van Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, van Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, van den Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318287/ https://www.ncbi.nlm.nih.gov/pubmed/32112656 http://dx.doi.org/10.1002/humu.24004 |
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