Myofibrillar myopathies (MFMs) are rare heterogeneous neuromuscular disorders characterized by aggregation of degraded myofibrillar products in skeletal muscle fibers. At least 6 genes including LDB3/ZASP, MYOT, DES, BAG3, CRYAB and FLNC have been identified in multiple international cohorts. MFMs are characterized by marked clinical variability. Muscle weakness often involve the feet, calves, hands and forearms. Cardiac and respiratory dysfunction are common. Extramuscular manifestations including axonal neuropathy, deafness, diarrhea, dysphonia and cataracts are increasingly recognized in MFM patients.

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