Associated Papers
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle.
Sevdali M et al.
Neuromuscular Disorders : Nmd, 2013
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Domazetovska A et al.
Annals of Neurology, 2007
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
Hutchinson DO et al.
Neuromuscular Disorders : Nmd, 2006
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B et al.
Human Molecular Genetics, 2004
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
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