A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy.

Abstract excerpt

Skeletal muscle filaminopathy is caused by mutations in the gene encoding filamin C (FLNC). The phenotypes include both proximal and distal myopathy, of which proximal myopathy phenotype pathologically displays myofibrillar myopathy as mutated filamin C produces protein aggregates. FLNC-related myofibrillar myopathy usually starts in the fourth to fifth decade and often progresses to cause inability to walk,...

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