Filamin C myopathy (Q84635): Difference between revisions
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A miopatia comm filamina C é uma classe de miopatias esqueléticas progressivas devido à mutação no gene da filamina C (FLNC). Os pacientes apresentam inicialmente fraqueza muscular proximal, enquanto os músculos distais e respiratórios são afetados com a progressão da doença. Em algumas formas, ocasionalmente resulta em tetraparesia e dependência de cadeira de rodas. A biópsia muscular mostra sinais típicos de miopatia miofibrilar, incluindo desintegração das miofibrilas e agregação de várias proteínas em depósitos intracelulares distintos. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
