Catalog

Filamin C myopathy

No MMS code

Link to WHO Definition

Filamin C myopathy – http://id.who.int/icd/entity/1084199137

Filamin C myopathy is a class of progressive skeletal myopathies due to mutation in the filamin C gene (FLNC). Patients initially present with proximal muscle weakness, while distal and respiratory muscles become affected with disease progression. In some forms, it eventually results in tetraparesis and wheelchair dependence. Muscle biopsy shows typical signs of myofibrillar myopathy, including disintegration of myofibrils and aggregation of several proteins into distinct intracellular deposits.