Browsing by Subject "Neurogenetics"

Now showing items 1-2 of 2

    • CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample 
      Amenabar, F.; Jorquera, H.; Acuña, M.; Cifuentes, Lucia (2009)
      To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′-UTR of the gene ...
    • Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy 
      Castiglioni, Claudia; Cassandrini, Denis; Fattori, Fabiana; Bellacchio, Emanuele; D'Amico, Adele; Alvarez, Karin; Gejman, Roger; Gonzalo Díaz, Jorge; Santorelli, Filippo M.; Romero, Norma B.; Bertini, Enrico; Bevilacqua, Jorge (John Wiley and Sons Inc., 2014)
      © 2014 Wiley Periodicals, Inc.Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary ...