Congenital myopathies: diseases of the actin cytoskeleton
E Clarkson, CF Costa… - The Journal of Pathology …, 2004 - Wiley Online Library
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by
skeletal muscle weakness ranging in severity. Three major forms have been identified: actin …
skeletal muscle weakness ranging in severity. Three major forms have been identified: actin …
Myopathies resulting from mutations in sarcomeric proteins
CG Bönnemann, NG Laing - Current opinion in neurology, 2004 - journals.lww.com
An increasing spectrum of human muscle diseases is being shown to be caused by
mutations in proteins of all the major components of the sarcomere. Molecular analysis is …
mutations in proteins of all the major components of the sarcomere. Molecular analysis is …
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
B Ilkovski, KJ Nowak, A Domazetovska… - Human molecular …, 2004 - academic.oup.com
We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle
α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates …
α-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates …