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INTRODUCTION: Hereditary muscle disorders are a genetically heterogeneous group of rare diseases with overlapping phenotypes causing difficulties in establishing a diagnosis. Genetic testing isthe only reliable tool to confirm a prompt diagnosis.Genetically confirmed diagnosisisrequired forthe future targeted therapies and the genetic counselling. Department of Neurology, Warsaw Medical University,...
INTRODUCTION: Limb-girdle muscular dystrophies (LGMD) are hereditary progressive disorders of skeletal muscles. Currently 33 LGMD types are recognized. For up to 50% of LGMD patients the causal genetic defect remains unknown. There is considerable phenotypic variability, even among patients with identical causal mutation. Mutations in fukutin-related protein (FKRP) gene are responsible for an autosomal...
Our paper presents problems of local waste management systems in Poland using the example of the environmentally valuable area of Pobiedziska urban-rural commune, which has serious problems with municipal waste management. Right now, illegal waste sites are common all over this precious area due to low ecological awareness by the inhabitants. We will show problems caused by the previous waste management...
The article deals with issues of road transport influence on the natural environment. The research was carried out with regard to the Poznań agglomeration, where there are many valuable natural areas. In order to assess natural environment quality, negative road transport influence levels, and range, and in order to identify the conflicts between communication routes and the natural environment within...
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