myofibrillar myopathy
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
MONDO:0002921
congenital structural myopathy
is_a
Alpha Beta crystallinopathy (type)
related
Desminopathy (type)
related
Protein surplus myopathy (former name)
related
Zaspopathy (type)
related
desmin related myopathy (former name)
related
desmin storage myopathy (former name)
related
filaminopathy (type)
related
myofibrillar myopathies
related
myofibrillar myopathy
exact
myofibrillar myopathy (disease)
exact
myotilinopathy (type)
related
SPBC3E7.02c SPCC338.06c SPCC613.04c SPAC926.03