sarcomeric proteins

The most important advances in sarcomeric protein diseases continue to be the identification of mutated genes responsible for human diseases. These have recently included those that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies.

Members

 titin
 nebulin
 alpha-tropomyosin
 skeletal muscle alpha-actin

Pathology

 sarcomeric protein diseases

Sarcomeric protein diseases are due to mutations in genes that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies.

 Pathology of the titin protein (titinopathy)

References

 Laing NG. Inherited disorders of sarcomeric proteins. Curr Opin Neurol. 1999 Oct;12(5):513-8. 10590887