An introduction to the molecular basis of inherited myelin diseases
- 1 July 1993
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 16 (4) , 724-732
- https://doi.org/10.1007/bf00711904
Abstract
Summary: The myelin sheath is an extension of a plasma membrane tightly wrapped around axons. It facilitates conduction while conserving space and energy. Myelin is characterized by a high lipid content (80% of dry weight). Most myelin proteins are unique to that structure and some of them are restricted to the central or peripheral nervous system. In this review a few examples of inherited metabolic disorders affecting the oligodendrocyte and/or the Schwann cells are presented. Emphasis is placed on mutations in animals that represent invaluable models for investigating the molecular mechanisms of inherited myelin diseases in humans.Keywords
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