VP163 Filaminopathy presenting as myofibrillar myopathy with nemaline bodies and ring fibers

The FLNC (filamin C) gene has been associated with autosomal dominant distal myopathy, autosomal dominant and autosomal recessive myofibrillar myopathy, autosomal dominant hypertrophic cardiomyopathy, and autosomal recessive restrictive cardiomyopathy, according to the 2023 version of the gene table of neuromuscular disorders. Myofibrillar myopathies are morphologically characterized by immunohistochemical ectopic expression of proteins, myofibrillar dissolution and disintegration of the Z-disk and abnormal accumulation of degradation products on electron microscopy.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: A. Cotta, A da Cunha Junior, E. Carvalho, E. da Silveira, C. Costa e Silva, R. da Silva Neto, A. Cauhi, J. Valicek, A. Vargas Source Type: research