Abstract
Neurogenetics combines neurological and genetic approaches to muscular dystrophy and congenital myopathies. The main reason for this is to make the genetic issues available to a wide neurological community, and to provide genetic experts with an overview of the neurological, neurophysiological and clinical-pathological symptoms of the solved 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 methods of genetic counseling) and a clinical section supplemented by case reports of some types of diseases. The clinical neurologist gains a general overview of genetics and its methods in the book, as well as the characteristic findings of neurophysiological examinations and muscle biopsies, and detailed information on individual muscular dystrophies and congenital myopathies, both clinical and genetic: the type of heredity, responsible protein, and diagnostic methods.
Who is the book for: neurologists, geneticists, pediatricians