Associated Papers
ACTA1-related congenital myopathy in a neonate: a case report and literature review.
Zhao L et al.
Frontiers in Pediatrics, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f1.docx
Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.
Mulvany-Robbins B et al.
Neuromuscular Disorders : Nmd, 2023
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