Inherited neuropathies.
Inherited neuropathies are common and are usually caused by mutations in genes that are expressed by myelinating Schwann cells or neurons, which is the biological basis for long-standing distinction between primary demyelinating and axonal neuropathies. Neuropathies can be isolated, the primary manifestation of a more complex syndrome, or overshadowed by other aspects of the inherited disease. Increasing knowledge of the molecular-genetic causes of inherited neuropathies facilitates faster, more accurate diagnosis, and sets the stage for development of specific therapeutic interventions.
Kleopa
Kleopas A
KA
University of Pennsylvania Medical Center, 3400 Spruce Street, 3 West Gates, Philadelphia, PA 19104, USA. kleopa@mail.med.upenn.edu
Scherer
Steven S
SS
D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D025202:Molecular Diagnostic Techniques; D010641:Phenotype; D012183:Retrograde Degeneration / Q000145:classification / Q000175:diagnosis / Q000235:genetics*
D005819:Genetic Markers