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  • Novel ACTA1 Mutation in a Family with Congenital Myopathy . . . - Neurology
    ACTA1 encodes skeletal muscle alpha-actin, the primary actin isoform in human skeletal muscle, also expressed to a lesser degree in cardiac muscle Mutations in ACTA1 are common in patients with congenital myopathies; however, associated cardiomyopathy is rare
  • ACTA1 gene: MedlinePlus Genetics
    At least nine variants (also called mutations) in the ACTA1 gene have been identified in people with actin-accumulation myopathy Most of these variants change single protein building blocks (amino acids) in the skeletal α-actin protein sequence
  • ACTA1 -related congenital myopathy in a neonate: a case . . . - Frontiers
    Among the various genetic causes, mutations in the ACTA1 gene, which encodes skeletal muscle α -actin, account for approximately 15%–25% of cases These mutations are associated with distinct histopathological subtypes, including nemaline myopathy, actin aggregate myopathy, and congenital fiber-type disproportion (CFTD) ( )
  • A recurrent ACTA1 amino acid change in mosaic form causes milder . . .
    Mutations in the gene for skeletal muscle α-actin 1 (ACTA1), expressed in skeletal muscle tissue, are a common cause of congenital myopathies ACTA1 mutations often lead to severe congenital nemaline myopathy (NM) but may, in some instances, cause much milder muscle weakness [1]
  • Cytoplasmic body pathology in severe ACTA1-related myopathy in the . . .
    Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods
  • ACTA1 gene - MedlinePlus
    At least nine variants (also called mutations) in the ACTA1 gene have been identified in people with actin-accumulation myopathy Most of these variants change single protein building blocks (amino acids) in the skeletal a-actin protein sequence
  • An Update on Reported Variants in the Skeletal Muscle
    The vast majority (74%) of ACTA1 variants cause nemaline myopathy (NEM), but there are increasing numbers that cause cardiomyopathy and novel phenotypes such as distal myopathy We highlight challenges associated with identifying genotype–phenotype correlations for ACTA1
  • Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy . . .
    In conclusion, we reviewed the clinical, histologic, and molecular findings of the main types of congenital myopathy associated with ACTA1 gene, illustrated with four patients from a cohort of NEM harboring ACTA1 mutations
  • An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene
    The vast majority (74%) of ACTA1 variants cause nemaline myopathy (NEM), but there fi are increasing numbers that cause cardiomyopathy and novel phenotypes such as distal myopathy We highlight challenges associated with identifying genotype–phenotype correlations for ACTA1





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