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
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
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
Hernandez-Lain A et al.
Neuromuscular Disorders : Nmd, 2019
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.
Lehtokari VL et al.
Neuromuscular Disorders : Nmd, 2018
New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Ravenscroft G et al.
Seminars in Cell & Developmental Biology, 2017
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky K et al.
Jama Neurology, 2015
Select a paper to view details