The first disease-causing FLNC mutations were described in the context of skeletal myopathies displaying the classical features of myofibrillar myopathies (MFMs; MIM# 609524), which are morphologically characterized by sarcoplasmic protein aggregates and degenerative changes of the myofibrillar apparatus [23, 67, 69, 86]. Here, FLNC is linked to myopathy.