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Inherited neuropathies.

作者信息

Kleopa Kleopas A, Scherer Steven S

机构信息

University of Pennsylvania Medical Center, 3400 Spruce Street, 3 West Gates, Philadelphia, PA 19104, USA.

出版信息

Neurol Clin. 2002 Aug;20(3):679-709. doi: 10.1016/s0733-8619(01)00016-0.

Abstract

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.

摘要

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