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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Mutation Update
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

Internet

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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