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.
Mit változtat a diagnózis
Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.
Más néven
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)
16 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- 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
