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  • Title: An introduction to the molecular basis of inherited myelin diseases.
    Author: Matthieu JM.
    Journal: J Inherit Metab Dis; 1993; 16(4):724-32. PubMed ID: 7692129.
    Abstract:
    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.
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