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GENATLAS PHENOTYPE
last update : 27/08/2008
Symbol ACTM
Location 1q42.13
Name actin myopathy, congenital
Corresponding gene ACTA1
Main clinical features
  • characterized by muscle weakness, hypotonia and possible fetal respiratory insufficiency, sarcolemmal accumulation of thin myofilaments, with/without nemaline bodies
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name actin, alpha 1, ACTA1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense      
    Remark(s) significant changes are observed in the polymerization kinetics with V43F and A138P mutations, associated to severe form, and in the rate of nucleotide release for V43F