Associated Papers
CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation.
Pei X et al.
Medicine, 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.f2.xlsx › 2.2_Pathogenicity
Actin Mutations and Their Role in Disease.
Parker F et al.
International Journal of Molecular Sciences, 2020
32397632 (PubMed )
Supplement: ijms-21-03371-s001.pdf
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
Arai A et al.
Neuromuscular Disorders : Nmd, 2009
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).
Koy A et al.
Neuropediatrics, 2007
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