DNA testing in hereditary neuropathies

摘要: The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances the last two decades. Molecular genetic testing is now an integral part evaluation patients with neuropathies. In this chapter we describe genes responsible for primary We briefly discuss clinical phenotype each known neuropathy subgroups, algorithms molecular affected counseling. basic principles careful phenotyping, documenting accurate family history, available appropriate manner should identify vast majority individuals CMT1 many those CMT2. also current methods testing. As made technologies improvements bioinformatics, it likely that time-consuming DNA sequencing will give way to quicker more efficient high-throughput methods, discussed here.