Distrofia miotonica di tipo 1
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Distrofia miotonica di tipo 1

Distrofia miotonica di tipo 1


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About the Book

La distrofia miotonica è una malattia multisistemica autosomica dominante caratterizzata da miopatia miotonica. I sintomi e la gravità della distrofia miotonica di tipo l (DM1) vanno da forme gravi e congenite, che spesso portano alla morte per insufficienza respiratoria, fino alla calvizie e alla cataratta a insorgenza tardiva. Nei pazienti adulti possono verificarsi anomalie della conduzione cardiaca che causano una vita più breve. Nelle generazioni successive, i sintomi della DM1 possono presentarsi in età più precoce e avere un decorso più grave (anticipazione). Lo screening basato sulla PCR è affidabile e dovrebbe essere utilizzato come test di screening iniziale per la diagnosi di DM; i risultati positivi dovrebbero poi essere confermati dal Southern Blotting. È opportuno offrire una consulenza genetica ai giovani adulti affetti o a rischio. Una serie di promettenti ed efficaci oligonucleotidi antisenso e piccole molecole sono in fase di sviluppo, ma molto lavoro deve essere ancora fatto. Sono stati fatti molti progressi, ma saranno necessari ulteriori studi di base e traslazionali per comprendere la patogenesi molecolare della DM1 e sviluppare strategie di trattamento sicure ed efficaci.


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Product Details
  • ISBN-13: 9786208160234
  • Publisher: KS Omniscriptum Publishing
  • Binding: Paperback
  • Language: Italian
  • Returnable: N
  • Sub Title: un disturbo dell'espansione della tripletta
  • Width: 152 mm
  • ISBN-10: 6208160235
  • Publisher Date: 07 Oct 2024
  • Height: 229 mm
  • No of Pages: 60
  • Spine Width: 4 mm
  • Weight: 154 gr


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