Associated Papers
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.
Mulvany-Robbins B et al.
Neuromuscular Disorders : Nmd, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.
Schmitt RE et al.
Npj Regenerative Medicine, 2022
36085325 (PubMed )
Supplement: 41536_2022_238_MOESM1_ESM.pdf
ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.
Liewluck T et al.
Neuromuscular Disorders : Nmd, 2019
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
Hernandez-Lain A et al.
Neuromuscular Disorders : Nmd, 2019
Autosomal dominant distal myopathy due to a novel ACTA1 mutation.
Liewluck T et al.
Neuromuscular Disorders : Nmd, 2017
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