Myofibrillar myopathies (MFMs) are rare, inherited or sporadic, progressive neuromuscular
disorders with considerable clinical and genetic heterogeneity. MFMs are defined
morphologically by foci of myofibril dissolution that begins at the Z-disk, accumulation of
myofibrillar degradation products, and ectopic expression of a large number of proteins
including desmin. To date, mutations in six genes are known to cause MFMs, accounting for
approximately half of the MFM patients identified. The causative genes encode mainly …