Associated Papers
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.
López-Cabrera A et al.
International Journal of Molecular Sciences, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
39833864 (PubMed )
Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases
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 Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.
Piñero-Pérez R et al.
Antioxidants (basel, Switzerland), 2023
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
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
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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