Copertina di Myotonic Dystrophy Type 1:An Eyesight of Tri Repeat Expansion Disorder
Titolo del libro:

Myotonic Dystrophy Type 1:An Eyesight of Tri Repeat Expansion Disorder

Scholars' Press (09.05.2017 )

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ISBN-13:

978-3-330-65177-7

ISBN-10:
3330651776
EAN:
9783330651777
Lingua del libro:
Inglese
Risvolto di copertina:
Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe and congenital forms, which frequently result in death because of respiratory deficiency, through to late-onset baldness and cataract. In adult patients, cardiac conduction abnormalities may occur and cause a shorter life span. In subsequent generations, the symptoms in DM1 may present at an earlier age and have a more severe course (anticipation). PCR based screening is reliable and should be used as an initial screening test for DM diagnosis and the positive results should then be confirmed by Southern Blotting. It is appropriate to offer genetic counseling to young adults who affected or are at risk. A series of promising and effective antisense oligonucleotides and small molecules are in the pipeline of development but much work still needs to be done. Much progress has been made, additional basic and translational studies will be required to understand molecular pathogenesis of DM1 and to develop safe and effective treatment strategies.
Casa editrice:
Scholars' Press
Sito Web:
http://www.scholars-press.com
Da (autore):
Ashok Kumar, Sarita Agarwal
Numero di pagine:
80
Pubblicato il:
09.05.2017
Giacenza di magazzino:
Disponibile
categoria:
Genetica
Prezzo:
45,90 €
Parole chiave:
DMPK, therapeutics, DM1, CTG repeat, Anticipation, TP-PCR

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