Associated Papers
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
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38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
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Human Mutation, 2024
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Supplement: 6496088.f2.xlsx › 2.10_Newer_reports_-_other
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
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