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 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