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GENATLAS PHENOTYPE
last update : 14-05-2014
Symbol NEM3
Location 1q42.13
Name nemaline myopathy 3
Other name(s) nemaline myopathy caused by mutation in the alpha-actin gene
Corresponding gene ACTA1
Main clinical features
  • severe and mild expression, may be in the same family
  • onset in infancy or early childhood with hypotonia and muscle weakness, slowly progressive or nonprogressive
  • tall thin face and facial myopathy were prominent features in the affected adults
  • associated with the presence of nemaline bodies in muscle fibers (intranuclear and cytoplasmic rod formation, accumulation of thin filaments and myofibrillar desorganization)
  • at light microscopy, muscle biopsies ranged from almost normal, to chronic myopathy with sarcoplasmic and intranuclear rods
    • Genetic determination autosomal recessive
    autosomal dominant
    Related entries neonatal forms lethal, with arthrogryposis, multiple pterygia
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name actin, alpha 1, ACTA1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function V163M result in intranuclear rods by virtue of its close proximity to a nuclear export signal within the actin molecule
    Remark(s)
  • missense heterozygous mutation a>g in exon 7 (K336E), associated to fatal hypertrophic cardiomyopathy and nemaline myopathy
  • mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness (PMID: 23029319))