Associated Papers
Pathologic Variability Associated With Phenotypic Differences in Siblings With ACTA1 Myopathy.
Kiss R et al.
Muscle & Nerve, 2026
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Hildebrandt C et al.
Neurology. Genetics, 2025
40661861 (PubMed )
Supplement: Supplements.pdf
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
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 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
Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.
Glyakina AV et al.
Biophysical Reviews, 2022
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
Witting N et al.
Muscle & Nerve, 2016
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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