Associated Papers
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity
Actin Mutations and Their Role in Disease.
Parker F et al.
International Journal of Molecular Sciences, 2020
32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.
Ahmed AA et al.
American Journal of Medical Genetics. Part A, 2018
Myopathy-causing actin mutations promote defects in serum-response factor signalling.
Visegrády B et al.
The Biochemical Journal, 2010
Select a paper to view details