Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of pathologically
defined congenital myopathies. Most patients have dominant mutations and experience …

Mutations in the nebulin gene are the main cause of autosomal recessive nemaline
myopathy, with clinical presentations ranging from mild to severe disease. We have …

Mutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies
including nemaline myopathy, actin aggregate myopathy and rod-core disease. The majority …

We describe a severe congenital myopathy patient of Xhosa native African origin with a
novel de novo p. Gly152Ala skeletal muscle α-actin gene (ACTA1) mutation, who died at …

Sporadic late-onset nemaline myopathy (SLONM) is a rare disease and typically presents in
patients older than 40 years with slowly progressive weakness in a limb-girdle distribution …

Muscle diseases, also called myopathies, are usually defined as diseases where the
pathology is confined to the muscle itself. This excludes diseases caused by structural …

The sarcomeric protein diseases are heterogeneous, both genetically and phenotypically.
For example, mutations in a number of different thin filament genes (skeletal muscle αactin …

Materials indicative of the expressed biochemical polymorphism of actins and various actin-
binding proteins (ABP) which take part in formation of actin microfilaments, and also data on …