Associated Papers
Pathologic Variability Associated With Phenotypic Differences in Siblings With ACTA1 Myopathy.
Kiss R et al.
Muscle & Nerve, 2026
Identification of de novo variants from parent-proband duos via long-read sequencing.
Boukas L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
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
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
36314217 (PubMed )
Supplement: jnd-10-jnd221543-s003.docx
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C et al.
Acta Neuropathologica Communications, 2022
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B et al.
Journal of Child Neurology, 2022
Nemaline myopathies: a current view.
Sewry CA et al.
Journal of Muscle Research and Cell Motility, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
Recent advances in understanding congenital myopathies.
Ravenscroft G et al.
F1000research, 2018
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Donkervoort S et al.
Neuromuscular Disorders : Nmd, 2017
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
Saito Y et al.
Neuromuscular Disorders : Nmd, 2011
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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