Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include
desmin, alphaB-crystallin (alphaBC),
dystrophin and congophilic amyloid material. Subsequent studies revealed dominant mutations in
desmin and alphaBC in some MFM patients.
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