Myofibrillar myopathies and the Z-disk associated proteins

Myofibrillar myopathies (MFMs) are typically autosomal dominant myopathies with late onset progressive muscle weakness and symptoms initially evident in the distal muscle groups. However, there is a significant variability in the presentation of these diseases, with the age of onset ranging from infantile to late seventies; the involvement of the heart, respiratory muscles, distal and proximal muscle groups; and severity covering the full spectrum from mild muscle weakness to premature lethality.