Associated Papers
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.
Amaro A et al.
Brain : a Journal of Neurology, 2025
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
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL et al.
Neuromuscular Disorders : Nmd, 2024
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
Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant.
Akuamoah-Boateng G et al.
Ajp Reports, 2021
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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