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