Desmin
Autosomal dominant inheritance (most often)
A myofibrillar myopathy that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
Desmin-related MFM is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, and restrictive heart failure, and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. Autosomal dominant and autosomal recessive forms have been reported. Approximately one-third of DRMs are thought to be caused by mutations in the desmin gene.
