Abstract
Neurogenetics combines a neurological and genetic approach to muscular dystrophies and congenital myopathies. The main reason is to make genetic issues accessible to the broad neurological community and to provide genetic experts with an overview of the neurological, neurophysiological and clinical-pathological symptoms of the treated diseases.
The book has two main parts - genetics with a focus on selected groups of diseases (explanation of basic genetic concepts, a brief description of genetic laboratory methods and genetic counseling methods) and a clinical part supplemented with case reports of certain types of diseases. In the book, the clinical neurologist will get a general overview of genetics and its methods, but also of the characteristic findings of neurophysiological examinations and muscle biopsies, and detailed information about individual muscular dystrophies and congenital myopathies, both clinical and genetic: about the type of inheritance, the responsible protein and diagnostic methods.
To whom the book is intended: neurologists, geneticists, paediatricians.