Approaches in Diagnostic & Care of Duchenne/Becker Muscular Dystrophy Genotype-phenotype correlations in Duchenne/Becker muscular dystrophy patients
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- Englisch ausgewählt
Fr. 67.90
inkl. gesetzl. MwSt.,
Beschreibung
Produktdetails
Einband
Taschenbuch
Erscheinungsdatum
22.12.2011
Verlag
LAP LAMBERT Academic PublishingSeitenzahl
104
Maße (L/B/H)
22/15/0.7 cm
Gewicht
173 g
Auflage
1. Auflage
Sprache
Englisch
ISBN
978-3-8473-1737-1
This book presents a contemporary approach in the diagnosis, follow-up, treatment and care of Duchenne/Becker muscular dystrophy. Modern genetic tests are used to clarify molecular defects in our patients and to prepare them for future gene therapies. This is the first characterization of the cognitive impairment in Bulgarian patients with dystrophinopathy. The findings of the present study demonstrate that the cognitive profile of patients with dystrophinopathies is characterised by a broad range of intellectual abilities, as in addition to borderline general intellectual abilities, verbal short-term memory, is more severely affected than the long term one. A significant difference was found between general cognitive abilities in patients with an intact Dp140 isoform versus patients whose deletion was incompatible with formation of intact Dp140.
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