Associated Papers
Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.
Meyer AP et al.
Neuromuscular Disorders : Nmd, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2023
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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