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Anglický jazyk
Myotonic Dystrophy Type 1:An Eyesight of Tri Repeat Expansion Disorder
Autor: Ashok Kumar
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... Viac o knihe
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O knihe
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.
- Vydavateľstvo: Scholars' Press
- Rok vydania: 2017
- Formát: Paperback
- Rozmer: 220 x 150 mm
- Jazyk: Anglický jazyk
- ISBN: 9783330651777
