Myofibrillar myopathy
A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.
Co se diagnózou změní
Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.
Známé také jako
Alpha Beta crystallinopathy (type); desmin related myopathy (former name); desmin storage myopathy (former name); Desminopathy (type); filaminopathy (type); myofibrillar myopathies; myofibrillar myopathy (disease); myotilinopathy (type); Protein surplus myopathy (former name); Zaspopathy (type)
Zahrnuje 16 příbuzných podtypů ↓Skrýt podtypy ↑
- central core myopathy
- fatal infantile hypertonic myofibrillar myopathy
- kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
- myofibrillar myopathy 1
- myofibrillar myopathy 10
- myofibrillar myopathy 11
- myofibrillar myopathy 2
- myofibrillar myopathy 3
- myofibrillar myopathy 4
- myofibrillar myopathy 5
- myofibrillar myopathy 6
- myofibrillar myopathy 7
- myofibrillar myopathy 8
- myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- myopathy, myofibrillar, 13, with rimmed vacuoles
- myopathy, myofibrillar, 9, with early respiratory failure
