Associated Papers
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
Novel deletion in the ACTA1 gene associated with milder phenotype of nemaline myopathy in Chinese patient: a case report.
Yang L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
Friedman B et al.
Neuromuscular Disorders : Nmd, 2014
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