A mutation update for the FLNC gene in myopathies and cardiomyopathies.

doi:10.1002/humu.24004

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Article

A mutation update for the FLNC gene in myopathies and cardiomyopathies.

Human mutation - 1 Jun 2020

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

Abstract excerpt

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 cardiomyopathies (HCM and DCM). FLNC variants are now among the more prevalent causes of genetic DCM. FLNC-associated DCM...

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Identifiers

PMID: 32112656
DOI: 10.1002/humu.24004
PMCID: PMC7318287

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