In humans, more than 140 different mutations within seven genes (ACTA1, TPM2, TPM3,
TNNI2, TNNT1, TNNT3, and NEB) that encode thin filament proteins (skeletal α-actin, β …

The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal
muscle. Over the past decade there have been major advances in defining the genetic basis …

A number of congenital muscle diseases and disorders are caused by mutations in genes
that encode the proteins present in or associated with the thin filaments of the muscle …

Mutations in human α-skeletal actin have been implicated in causing congenital nemaline
myopathy, a disease characterized histopathologically by nemaline bodies in skeletal …

Skeletal muscle α-actin is the principal protein component of the adult skeletal muscle thin
filament. The interaction between skeletal, muscle α-actin and the various myosin heavy …

Mutations in actin and tropomyosin, identified in patients with myopathic disease have been
used in tissue culture models and functional studies with a view to understand how these …

The human genome, as for other mammals, contains six actin genes, ACTA1, ACTA2, ACTB,
ACTC, ACTG1, and ACTG2. Four of these genes are differentially expressed in cardiac …