Filamin C myopathy (Q84635): Difference between revisions

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Latest revision as of 09:58, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1084199137
English	Filamin C myopathy	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.